A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree / 中华实验眼科杂志

Objective:To identify the pathogenic gene and inheritance pattern in a pedigree of congenital iris coloboma with congenital cataract.Methods:The method of pedigree investigation was adopted.A pedigree of congenital iris coloboma with congenital cataract was collected by Yunnan Disabled Rehabilitation Center and the 2nd Afliated Hospital of Kunming Medical University in February 2020.Ophthalmic examinations were carried out on the female proband, her parents, her children and her husband, and the clinical diagnosis was made.Genomic DNA was extracted from peripheral blood samples collected from the family members.The suspected pathogenic gene in the proband and her husband was screened by whole exome sequencing and was identified by bioinformatics analysis.The amino acid conservation was analyzed by UGENE software.The impact of the mutation on protein translation was predicted using MutationTaster software.The pathogenicity of the mutation was assessed according to the American College of Medical Genetics (ACMG) Standards and Guidelines.Pathogenic gene and mutations were verified by Sanger sequencing.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the 2nd Afliated Hospital of Kunming Medical University (No.PJ-2020-61).Written informed consent was obtained from each subject or custodian.Results:The proband showed large iris defects in both eyes with only a small amount of observable iris tissue in the periphery, lens cortical opacity and posterior capsule opacification, accompanied by nystagmus.A novel heterozygous frameshift variation c. 415dupA (p.R139fs) was located in exon 8 of PAX6 gene, and the variation was conservative across multiple species.The variation was in the highly conserved region of PAX6 gene and caused the dysfunction of PAX6 protein.The variation was graded as PVS1+ PM2+ PP1, a pathogenic variation, based on ACMG guidelines.The pedigree was consistent with co-segregation, indicating that the novel variation was pathogenic.The proband and her children were diagnosed, but her parents were phenotypically normal, in accordance with autosomal dominant inheritance. Conclusions:The novel frameshift variation c.415dupA (p.R139fs) on the exon 8 of PAX6 gene is responsible for congenital iris coloboma with congenital cataract in the pedigree.This is the first report of this novel variation in PAX6 gene.

Features of iris and fundus fluorescein angiography in diabetic iridopathy / 中华实验眼科杂志

Objective:To investigate the imaging features of iris fluorescein angiography (IFA) combined with fluorescein fundus angiography (FFA) in diabetic iridopathy.Methods:A cross-sectional study was conducted.Sixty-five eyes of 44 patients with proliferative diabetic retinopathy (PDR) combined with diabetic iridopathy (DI) were enrolled in Henan Eye Hospital from May 2013 to May 2020.Patients were divided into non-proliferative diabetic iridopathy (NPDI) group and rubeosis iridis group according to the imaging results.Ophthalmic examinations including visual acuity, intraocular pressure, slit lamp miacroscopy, IFA and FFA were carried out in all patients.IFA was used to detect the iris imaging characteristics and the regression time of fluorescein in anterior chamber, and FFA was used to observe the retinal image characteristics and the incidence of optic disc neovascularization.To avoid the statistical error of recording the IFA examination time of the contralateral eye, only the relevant data of the affected eyes were analyzed.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2020[06]). Written informed consent was obatined from all patients before any medical examination.Results:Among the patients, 30 cases (50 eyes) were with NPDI and 14 cases (15 eyes) were with rubeosis iridis.The fluorescein regression time in anterior chamber of NPDI group was (3.37±0.11) minutes, which was significantly shorter than (6.02±0.29) minutes of rubeosis iridis group ( t=8.541, P<0.001). Strong fluorescence of retinal neovascularization was observed in both groups.The incidence of optic disc neovascularization in NPDI group was 20% (6/30), which was significantly lower than 50% (7/14) in rubeosis iridis group ( P=0.04). Conclusions:Diabetic rubeosis iridis can be diagnosed by the imaging features of IFA and the fluorescein regression time in anterior chamber.PDR combined with optic disc neovascularization should be evaluated by FFA combined with IFA.

Heterocromia de íris: uma revisão das condições que podem afetar a pigmentação iridiana / Heterochromia: a review of conditions that may affect iris pigmentation

RESUMO A íris é responsável pela cor dos olhos. Ela ainda realiza o controle da quantidade de luz que penetra no olho pela pupila. Variações nos genes de cada indivíduo, além da quantidade e da qualidade de melanina na íris, determinam a cor dos olhos. A heterocromia é caracterizada por diferenças na coloração da íris de um mesmo indivíduo, sendo, na maioria das vezes, benigna. Existem basicamente três tipos de heterocromia de íris: central, setorial e completa. A heterocromia de íris pode ter como causa alterações genéticas e congênitas, relacionadas ou não a síndromes específicas, como a de Sturge-Weber, a de Waardenburg, a de Parry-Romberg e a de Horner congênita. Há também causas adquiridas, como doenças ou lesões, trauma ocular e corpos estranhos intraoculares, uso de certas medicações tópicas, siderose ocular, irites ou uveítes como a síndrome uveítica de Fuchs, dentre outras. Diante de um paciente com heterocromia de íris, deve-se entender o contexto e o curso clínico desse sinal, pois pode se tratar de uma alteração de pigmentação benigna ou existir uma doença base em curso, que requer terapêutica específica. Este artigo de revisão de literatura visa abordar as principais etiologias relacionadas à heterocromia de íris, além de discorrer sobre a anatomia e a fisiologia da coloração iridiana e sobre a fisiopatologia de suas possíveis alterações.

ABSTRACT The iris is responsible for eye color and controls the amount of light that enters the eye through the pupil. Variation in each individual's genes, besides the quantity and quality of melanin in the iris, determine eye color. Heterochromia is characterized by different colors of irises in the same individual, and it is benign in most cases. There are basically three types of heterochromia: central, partial and complete. Heterochromia can be caused by genetic and congenital alterations, which may or may not be related to specific conditions, such as Sturge-Weber syndrome, Waardenburg syndrome, Parry-Romberg syndrome and congenital Horner syndrome. It may be associated to acquired causes like diseases or injuries, such as eye trauma and intraocular foreign bodies, use of some topical medications, ocular siderosis, iritis or uveitis, such as Fuchs´ uveitis, among others. When assessing a patient with heterochromia, one must understand the context and clinical course of this signal, since it may be a benign pigmentation disorder or there may be an underlying disease, which requires specific therapy. This literature review article was set out to address the main etiologies related to heterochromia, in addition to describing the anatomy and physiology of the iris color and the pathophysiology of possible alterations.

Iris cyst and atypical complications / Cisto de íris e complicações atípicas

ABSTRACT The authors report the case of a male adult presenting significant ocular complications and irreversible visual impairment, resulting from the long-term progression and late diagnosis of an iris cyst in the right eye, probably secondary to trauma. The patient was admitted to Hospital Universitário Antonio Pedro with a total corneal opacity that blocked direct visualization of the anterior chamber. Ultrasound biomicroscopy was crucial for the anatomic study, and the patient was submitted to enucleation for aesthetic improvement and clarifying diagnosis. We concluded athalamia and deformation of the anterior segment, due to expansion of the cyst, led to gradual elevation of the intraocular pressure and damage of the optic nerve, resulting in visual loss.

RESUMO Relatamos o caso de um paciente com evolução e diagnóstico tardios de cisto de íris no olho direito, provavelmente secundário a trauma, com complicações importantes e baixa irreversível da visão, tendo sido admitido no Hospital Universitário Antônio Pedro já com leucoma total da córnea e câmara anterior indevassável. A biomicroscopia ultrassônica se mostrou imprescindível para o estudo anatômico, sendo o paciente finalmente submetido à enucleação, para melhora estética e elucidação diagnóstica. Concluímos que a atalamia e a desestruturação do segmento anterior, consequentes ao crescimento cístico, levaram a um gradativo aumento da pressão intraocular e lesão do nervo óptico, com consequente perda da visão.

Cisto Iridociliar Primário Espontâneo em Adulto: Relato de Caso / Primary Iridociliary Cyst: Case Report

Cistos iridociliar são lesões raras, em geral assintomáticas de ocorrência esporádica. Caracteriza-se por lesões globulares originadas em epitélio de íris e corpo ciliar. Trata-se de um caso raro de cisto iridociliar de origem primária, sem relação traumática ou medicamentosa, em paciente adulto jovem. Foi-se realizado exame clínico em consultório oftalmológico com suspeita de lesão em topografia de olho esquerdo, confirmada posteriormente em exame de ultrassom de alta resolução,a biomicroscopia ultrassônica. O tratamento instituído foi de acompanhamento médico continuado, devido ao risco de evolução com comprometimento da saúde ocular, entre eles obstrução visual aguda e glaucoma por fechamento angular grave.

Iridociliary cysts are rare lesions, usually asymptomatic and sporadic. It is characterized by globular lesions originating in iris epithelium and ciliary body. It is a rare case of iridociliary cyst of primary origin, without a traumatic or medication relationship, in a young adult patient. A clinical examination was carried out in an ophthalmology office with suspicion of a lesion in the topography of the left eye, which was later confirmed in a high-resolution ultrasound examination, ultrasound biomicroscopy. The treatment instituted was continuous medical follow-up, due to the risk of progression with impaired eye health, including acute visual obstruction and glaucoma due to severe angular closure.

Incidence of diabetic iridopathy and optic disc neovascularization in the contralateral eyes of proliferative diabetic retinopathy with proliferative diabetic iridopathy / 中华眼底病杂志

Objective:To observe the incidence of diabetic iridopathy and optic disc neovascularization in the contralateral eyes of proliferative diabetic retinopathy (PDR) with proliferative diabetic iridopathy (PDI).Methods:A retrospective case-control study. From February 2014 to May 2020, 72 eyes of 36 patients with PDR and PDI who underwent iris fluorescein angiography (IFA) combined with fluorescein fundus angiography(FFA) at the Henan Eye Institute were enrolled in the study. Among them, there were 34 eyes in 17 males and 38 eyes in 19 females; the average age was 62.3±4.7 years. All patients underwent best corrected visual acuity(BCVA), intraocular pressure, IFA combined with FFA examination. The BCVA examination was performed using the international standard visual acuity chart, which was converted into logarithm of the minimum angle of resolution BCVA for statistic analysis. According to PDI staging, patients were divided into early rubeosis iridis(RI) group and neovascular glaucoma (NVG) group, with 28 and 8 cases respectively. Compared with NVG group, RI group had better BCVA and intraocular pressure, and the difference was statistically significant( t=6.433, 10.619; P=0.000, 0.011). The incidence of PDI and the incidence of binocular optic disc neovascularization in the two groups were compared, and Fisher's exact probability method was used for comparison. Results:The results of the IFA examination showed that in the RI group, the pupil border and the iris surface of the iris of the affected eyes had strong neovascular bud-like or patchy fluorescence; the pupil border and the middle of the iris of the patients in the NVG stage had strong neovascular cluster-like fluorescence. Among the contralateral eyes in the RI group, 6 eyes (21.4%, 6/28) were with PDI (stage RI), 21 eyes (75.0%, 21/28) were with non-PDI (NPDI), and 1 eye (1/ 28, 3.6%) were absence of diabetic iris disease. Among the contralateral eyes in the NVG group, there were 5 eyes with PDI (62.5%, 5/8), including 4 eyes with RI stage, 1 eye with NVG stage (12.5%, 1/8); 3 eyes with NPDI. The image of IFA in patients with NPDI early showed as punctate fluorescence in the local small blood vessels of the iris itself. The incidence of PDI in the contralateral eye of the RI group was lower than that of the NVG group, and the difference was statistically significant ( P=0.040). The results of FFA examination showed that 9 (32.1%, 9/28) and 8 (28.6%, 8/28) eyes of the affected eye and the contralateral eye in the RI group were combined with optic disc neovascularization. In NVG group, there were seperately 6 eyes (75.0%, 6/8) in the affected eyes and the contralateral eyes with optic disc neovascularization. The differences in the incidence of optic disc neovascularization between the two groups of the affected eyes and the contralateral eye were statistically significant ( P=0.046, 0.040). Conclusion:The incidence of PDI and optic disc neovascularization in the contralateral eye of PDR and PDI, RI is lower than that of NVG.

Síndrome de Axenfeld-Rieger. Presentación de un caso / Axenfeld-Rieger syndrome. Presentation of a case

RESUMEN El síndrome de Axenfeld-Rieger es una enfermedad de origen genético de muy baja prevalencia que se hace acompañar de manifestaciones clínicas variables con afectación ocular y no ocular. Por tales razones se decidió presentar el caso de una paciente de 14 años de edad, antecedente familiar (en este caso su madre) de dicha enfermedad, con historia de retraso mental ligero, hipoacusia y mala visión en ambos ojos que se acompaña de alteraciones oculares: malformaciones a nivel del segmento anterior: deformidad de la pupila, prominencia blanquecina perilímbica que se corresponde con un embriotoxón posterior. Presenta otros signos de afectación no oculares: dismorfismo craneofacial leve, hipertelorismo, hipoplasia maxilar con aplanamiento del tercio medio facial, frente prominente, puente nasal ancho y aplastado así como anomalías dentales. Sufre complicaciones propias de la evolución de la entidad como es el glaucoma secundario, por lo que se trató con triple terapia con hipotensores oculares, en espera de la respuesta al tratamiento para, en el caso de una evolución tórpida, proceder al tratamiento quirúrgico: trabeculectomía.

ABSTRACT Axenfeld-Rieger syndrome is a very low prevalence disease of genetic origin that is accompanied by variable clinical manifestations with ocular and non-ocular involvement. For these reasons, it was decided to present the case of a 14-years-old patient with a family history (in this case her mother) of this disease, with a history of mild mental retardation, hearing loss and poor vision in both eyes that is accompanied by ocular alterations: malformations at the level of the anterior segment: pupil deformity, perilimbic whitish prominence corresponding to a posterior embryotoxon. He presents other non-ocular signs of involvement: mild craniofacial dysmorphism, hypertelorism, maxillary hypoplasia with flattening of the midface, prominent forehead, wide and flattened nasal bridge, as well as dental anomalies. He suffers from complications inherent to the evolution of the entity, such as secondary glaucoma, for which he was treated with triple therapy with ocular hypotensive agents, pending the response to treatment, and in the case of a torpid evolution, proceed to surgical treatment: trabeculectomy.

Spontaneous microscopic hyphema secondary to iris vascular tufts: Case report with video documentation

A 71-year-old woman presented with spontaneous microhyphema in her left eye, causing blurry vision. Bleeding stopped spontaneously shortly after several cycles of digital compression on the upper eyelid, (which were documented in video), and therefore, did not require laser photocoagulation, a possible approach previously explained to the patient. A microhemangioma at the edge of the iris was identified to be the cause of the condition. The hemorrhage did not recur during the follow-up period (9 months).

Sinais iridológicos comuns em pessoas com diagnóstico de esquizofrenia / Frequent iridologic signs in people with schizophrenia diagnostic

A esquizofrenia causa severos prejuízos à pessoa, principalmente na esfera social, e nem sempre o aparecimento dos primeiros sintomas leva a um diagnóstico imediato. Diante deste contexto, a iridologia, ciência que estuda a íris com base na densidade e na configuração do seu tecido, também denominado estroma iridal, permite conhecer a constituição do organismo, bem como suas debilidades inatas. O objetivo deste estudo foi investigar sinais iridológicos presentes na representação das áreas cerebrais de pessoas com diagnóstico de esquizofrenia. Para tanto, as íris de 56 participantes com este diagnóstico, usuários de um Centro de Atenção Psicossocial III, foram fotografadas com o Iridophoto (conjunto óptico para iridologia) e analisadas com base nos fundamentos da iridologia. Os dados iridológicos foram registrados em um formulário construído para este fim e analisados descritivamente. Os resultados mostraram que as regiões com maior presença de sinais foram a área dos cinco sentidos, com prevalência de 82,1% nas íris esquerdas e 73,2% nas direitas, e da mente inata - prevalência de 89,3% e 87,5% nas íris direitas e esquerdas, respectivamente. No que se refere aos sinais de fundo genético e fenotípico, foram encontrados radii solares, aberturas/lacunas e hiperpigmentações. Na mente inata, os sinais genotípicos apareceram em 51,8% das íris direitas e em 62,5% das esquerdas. Por sua vez, os sinais fenotípicos estiveram presentes em 51,8% das íris direitas e em 46,4% das esquerdas. Na área dos cinco sentidos, os achados genotípicos foram encontrados em 48,2% das íris direitas e em 58,9% das esquerdas, e os sinais fenotípicos em 42,9% e 42,1% das íris direitas e esquerdas, respectivamente. Os anéis estruturais mais frequentes nas íris dos participantes foram o arco senil (91,07%) e os anéis de tensão (89,3%). Por meio do cálculo tStudent bicaudal para uma média, os dados referentes à presença do arco senil foram analisados estatisticamente com auxílio do Programa R versão 3.5.1 e mostraram diferença estatisticamente significativa entre a média de idade dos participantes que apresentavam o arco senil em relação à idade de 60 anos citada na literatura (p= 0,005473). Em conclusão, percebese correlação significativa entre os sinais e anéis estruturais citados, com destaque para a área da mente inata e à dos cinco sentidos, e ao arco senil e anéis de tensão. Com base nos resultados obtidos, é possível afirmar que alguns sinais se replicam nas íris das pessoas com diagnóstico de esquizofrenia participantes do estudo. No entanto, outras pesquisas são necessárias para verificar esta relação

Schizophrenia provokes important damages to a person, mainly in the social realm, however not always the first symptoms lead to an immediate diagnostic. In this context, the iridology, science responsible to study the iris based in the density and the settings of their tissue, also known as iris stroma, enable to verify the organism constitution, such as their innate debilities. The main objective of this research was to study the presence of iridologic signs that indicate schizophrenia in representations of brainy areas of the iris of people with diagnostic of schizophrenia. In order to do this, the iris of 56 participants with schizophrenia diagnostic, users of a Psychosocial Attention Center III, were photographed with the Iridophoto (optic set for iridology) and were analyzed based the principles of iridology. The iridologic data were registered in a form elaborated for this purpose and descriptively analyzed. The results demonstrate that the regions with more presence of signs are the area of the five senses, with prevalence of 82,1% in the left iris and 73,2% right ones, and of the innate mind - prevalence of 89,3% and 87,5% in the right and in the left iris, respectively. With respect to the signs of genetic and phenotypic background, were found sunny radii, openings/gaps and hyperpigmentation. In the innate mind, the genotypic signs have appeared in 51,8% of the right iris and in 62,5% of the left ones. On the other hand, the phenotypic signs were present in 51,8% of the right iris and in 46,4% of the left ones. In the area of the five senses, the genotypic findings were noticed in 48,2% of the right iris and in 58,9% of the left ones, and the phenotypic signs in 42,9% and 42,1% of the right and left iris, respectively. The more frequent structural rings in the participants iris were the senile arc (91,07%) and the tension rings (89,3%). By the t-Student two-sided calculus for an average for the data related to the presence of the senile arc, were statistically analyzed with the R Program version 3.5.1, demonstrating significant statistic differences among the age average of the participants that had the senile arc compared to the 60 years old age found in the specialized literature (p= 0,005473). In conclusion, it is noticed a significant correlation between the signs and the structural rings mentioned, emphasizing the innate mind area and the five senses area, the senile arc and the tension rings area. Based in these results, it is possible to affirm that some signs replicate in the iris of person with diagnostic of schizophrenia that participated in this study. However, other researches are necessary to verify this relation

Juvenile xantogranuloma with íris involvement / Xantogranuloma juvenil com acometimento iriano

Abstract Herein we report a case of juvenile xantogranuloma, an inflammatory disease more commonly diagnosed during childhood and is characterized by cutaneous and ocular manifestations. Iris is the main target, presenting as local or diffuse yellowish lesions. Iris involvement may precipitate not only glaucoma but also amblyopia. Treatment is based on corticosteroids therapy, either local or systemic aiming disease control.

Resumo É relatado um caso raro de xantogranuloma juvenil, doença de natureza inflamatória diagnosticada mais frequentemente na infância, com manifestações cutâneas e oculares. A íris é o principal sítio extracutâneo da doença, apresentando-se como lesão amarelada, difusa ou localizada. O acometimento iriano pode acarretar surgimento de glaucoma, além de ambliopia. O manejo clínico da lesão ocular no presente caso foi baseado no necessidade no uso contínuo de corticoide tópico e sistêmico para estabilização da doença.

Glaucoma due to ciliary body cysts and pseudoplateau iris: a systematic review of the literature / Glaucoma associado a cistos de corpo ciliar e íris pseudoplateau: revisão sistemática da literatura

ABSTRACT The diagnosis of angle-closure glaucoma secondary to iridociliary cysts is challenging and lacks compiled literature support. We present a rare case of bilateral angle-closure glaucoma associated with pseudoplateau iris due to multiple ciliary cysts and conducted a systematic review of the literature to find similar case reports published between November 2006 and November 2016. Only 19 case reports present treatment modalities, and most cases required more than one therapeutic approach for controlling the intraocular pressure. Pseudoplateau iris attributed to iridociliary cysts should be considered in the differential diagnosis of patients with narrow angles, particularly those with ocular hypertension and glaucoma, in which management is complex. In addition to gonioscopy, ultrasound biomicroscopy is considered the conclusive method for accurate diagnosis.

RESUMO O diagnóstico de glaucoma de ângulo fechado secundário a cistos iridociliares é desafiador e não possui suporte da literatura compilada. Apresentamos um caso bilateral raro de glaucoma de ângulo fechado associado à íris pseudoplateau devido a cistos ciliares múltiplos e realizamos uma revisão sistemática da literatura de relatos de casos similares publicados entre novembro de 2006 e novembro de 2016. Apenas 19 relatos de casos apresentaram as modalidades de tratamento e na maioria deles foi necessário mais de uma abordagem terapêutica para controlar a pressão intra-ocular. Íris pseudoplateau atribuída a cistos iridociliários deve ser considerada no diagnóstico diferencial de pacientes com ângulos estreitos, particularmente aqueles com hipertensão ocular e glaucoma, em que o manejo é complexo. Além da go nioscopia, a biomicroscopia ultra-sônica é considerada o método conclusivo para o diagnóstico correto.

Secondary glaucoma induced by bilateral acute depigmentation of the iris / Glaucoma secundário à despigmentação bilateral aguda da íris

Abstract We report a case of a middle-aged woman who developed acute, bilateral, symmetrical, slightly transilluminating depigmentation of the iris and pigment discharge into the anterior chamber following the use of oral moxifloxacin for bacterial sinusitis. She had been misdiagnosed as having autoimmune uveitis, treated with steroids and tropicamide, and underwent severe ocular hypertension and glaucoma despite posterior correct diagnosis.

Resumo Relato de um caso de uma paciente do sexo feminino de meia idade que desenvolveu despigmentação bilateral simultânea aguda com dispersão de pigmentos na câmara anterior e discreta transiluminação após o uso de moxifloxacino oral para tratamento de sinusite bacteriana. Ela Havia sido diagnosticada com uveite autoimune e tratada com corticosteroide tópico e tropicamida e evoluiu com hipertensão ocular grave e glaucoma apesar de ,posteriormente, o diagnóstico ter sido correto.

Bilateral acute depigmentation of the iris: a case report / Despigmentação aguda bilateral da íris: um relato de caso

ABSTRACT Bilateral acute depigmentation of the iris (BADI) is a new clinical entity of unknown etiology and is characterized by bilateral, symmetrical, and simultaneous depigmentation of the iris with focal or diffuse stromal atrophy; this condition generally has a good prognosis. We present a case of a 26-year-old woman who noted a spontaneous change in the iris color in both eyes in the last 2 months. The ophthalmological findings were atrophy of the iris stroma and pigmentation of the trabecular meshwork, without affecting the pigmented epithelium of the iris. Her intraocular pressure was normal and the visual acuity was 20/20 in both eyes.

RESUMO A despigmentação aguda bilateral da íris (DABI) é uma nova entidade clínica caracterizada pela despigmentação bilateral, simétrica e simultânea da íris, com atrofia focal ou difusa do seu estroma, geralmente com bom prognóstico. Apresentamos o caso de uma mulher de 26 anos de idade que procurou atendimento médico em nosso serviço com queixa de mudança espontânea na cor da íris de ambos os olhos nos últimos dois meses. Os achados oftalmológicos observados durante o exame clínico foram atrofia do estroma da íris e pigmentação da malha trabecular, sem afetar o epitélio pigmentado da íris. A pressão intraocular era normal e acuidade visual de 20/20 em ambos os olhos.

Resultados del uso de la triamcinolona intravítrea en pacientes con rubeosis de iris / Results of the use of the intravitreous triamcinolone in patients with rubeosis iridis

Fundamento: la rubeosis del iris se asocia generalmente con diferentes enfermedades que producen falta de oxígeno en la retina. La falta de oxígeno hace que se liberen sustancias que estimulan la formación de nuevos vasos sanguíneos (angiogénesis) en un intento del organismo por solucionar la isquemia. La rubeosis de iris es la complicación más frecuente y precoz de muchas enfermedades vasculares del segmento posterior, que conlleva a una pérdida irreversible de la visión si no se diagnostica y se trata oportunamente. Objetivo: describir el comportamiento de la rubeosis de iris luego del tratamiento con triamcinolona intravítrea. Métodos: se realizó un estudio descriptivo de corte longitudinal, en pacientes con rubeosis de iris que acudieron a la consulta de retina del Centro Oftalmológico Carlos J Finlay, desde junio 2013 a junio 2014. El universo de estudio estuvo constituido por 25 pacientes y la muestra no probabilística estuvo formada por 30 ojos que cumplieron los criterios de inclusión, se les aplicó un formulario para recoger los datos. Los resultados se relacionaron con las siguientes variables: tensión ocular, síntomas, enfermedades que provocaron rubeosis de iris, grados de rubeosis. Resultados: la tensión ocular se estabilizó con el tratamiento empleado, el síntoma más frecuente fue el dolor. La retinopatía diabética proliferativa fue la afección más frecuente en el 40 % de los pacientes, seguido de la trombosis de la vena central de la retina. El estado de la rubeosis mejoró en más de la mitad de los pacientes, algunos con regresión completa. Conclusiones: la tensión intraocular mejoró después del tratamiento con triamcinolona intravítrea. Los síntomas desaparecieron en más de la mitad de los pacientes. La retinopatía diabética proliferativa fue la enfermedad más frecuente que provocó rubeosis de iris. Este signo desapareció en más de la mitad de los pacientes después del tratamiento.

Background: rubeosis iridis is generally associated to different diseases that produce lack of oxygen in the retina. It is the most frequent and early complication of many vascular diseases of the posterior segment that causes irreversible loss of vision if it is not early diagnosed and treated. Objective: to describe the behavior of rubeosis iridis after the treatment with intravitreous triamcinolone. Method: a descriptive, longitudinal study was conducted in patients with rubeosis iridis who came to the retina consultation of Carlos J. Finlay Ophthalmology Center from June 2013 to June 2014. The universe of the study was composed of 25 patients and the non-probabilistic sample by 30 eyes that matched the inclusion criteria. A form was applied to collect the data. The results were related to the following variables: ocular tension, symptoms, diseases that cause rubeosis iridis and rubeosis degrees. Results: ocular tension stabilized with the treatment applied. The most frequent symptom was pain. Proliferative diabetic retinopathy was the most frequent disease in the 40 % of the patients, followed by thrombosis of the central retinal vein. More than the half of the patients improved their condition, some of them with a complete regression. Conclusions: intraocular tension improved after the treatment with intravitreous triamcinolone. Symptoms disappeared in more than the half of the patients. Proliferative diabetic retinopathy was the most frequent disease that caused rubeosis iridis. This sign disappeared in more than the half of the patients after the treatment.

Bilateral acute iris transillumination (BAIT) initially misdiagnosed as acute iridocyclitis / Transiluminação de íris aguda bilateral (BAIT) inicialmente diagnosticada como iridociclite aguda

Bilateral acute iris transillumination (BAIT) is a relatively new clinical entity characterized by bilateral acute loss of iris pigment epithelium, iris transillumination, pigment dispersion in the anterior chamber, and sphincter paralysis. We report the case of a 30-year-old male who was initially diagnosed with acute iridocyclitis in a different clinic and treated with topical and systemic corticosteroids. He was referred to our clinic to seek another opinion because his symptoms did not improve. An ocular examination revealed bilateral pigment dispersion into the anterior chamber, diffuse iris transillumination, pigment dusting on the anterior lens capsule, atonic and distorted pupils, and increased intraocular pressure, suggesting a diagnosis of BAIT rather than iridocyclitis. Clinicians should be aware of the differential diagnosis of syndromes associated with pigment dispersion from iridocyclitis to avoid aggressive anti-inflammatory therapy and detailed investigation for uveitis.

A transiluminação de íris aguda bilateral (do inglês, bilateral acute iris transillumination, BAIT) é uma entidade clínica relativamente nova, caracterizada pela perda aguda bilateral do epitélio pigmentado da íris, transiluminação iriana, dispersão de pigmentos na câmara anterior, e paralisia do esfíncter pupilar. Nós relatamos o caso de um homem de 30 anos que foi diagnosticado com iridociclite aguda e tratado com corticosteroides tópicos e sistêmicos. Ele foi encaminhado ao nosso serviço para outra opinião, porque seus sintomas não melhoram com a terapia. Um exame oftalmológico revelou dispersão bilateral de pigmentos para a câmara anterior, transiluminação difusa de íris, pigmento difusa na cápsula anterior do cristalino, pupilas atônicas e distorcidas, e um aumento da pressão intraocular, o que sugere um diagnóstico de BAIT em vez de iridociclite. Os médicos devem estar cientes do diagnóstico diferencial das síndromes associadas à dispersão de pigmento com a iridociclite para evitar a terapia antiinflamatória agressiva e investigação detalhada para uveíte.

Non-pupillary block angle-closure mechanisms: a comprehensive analysis of their prevalence and treatment outcomes / Mecanismos de fechamento angular sem bloqueio pupilar: análise de prevalência e resultados terapêuticos

Purpose: To assess the prevalence and treatment outcomes of angle-closure mechanisms other than pupillary block in a population of Brazilian patients. Methods: A retrospective chart review was conducted to evaluate patients who had undergone laser peripheral iridotomy (LPI) due to occludable angles at a single institution between July 2009 and April 2012. An occludable angle was defined as an eye in which the posterior trabecular meshwork was not visible for ≥180° on dark-room gonioscopy. Key exclusion criteria were any form of secondary glaucoma and the presence of >90° of peripheral anterior synechiae. Collected data were age, race, gender, angle-closure mechanism (based on indentation goniocopy and ultrasound biomicroscopy), intraocular pressure (IOP), number of antiglaucoma medications and subsequent management during follow-up. If both eyes were eligible, the right eye was arbitrarily selected for analysis. Results: A total of 196 eyes of 196 consecutive patients (mean age 58.3 ± 11.6 years) who underwent LPI were included. In most of the patients [86% (169 patients; 133 women and 36 men]), LPI sucessfully opened the angle. Mean IOP was reduced from 18.3 ± 6.4 mmHg to 15.4 ± 4.5 mmHg after LPI (p<0.01). Among the 27 patients with persistent occludable angles, the most common underlying mechanisms were plateau iris (56%) and lens-induced component (34%). Most of these patients (85%) were treated with argon laser peripheral iridoplasty (ALPI); approximately 90% showed non-occludable angles following the laser procedure (mean IOP reduction of 18.9%), with no significant differences between patients with plateau iris and lens-induced components (p=0.34; mean follow-up of 11.4 ± 3.6 months). Conclusion: Our findings suggest that, in this population of Brazilian patients, several eyes with angle closure were not completely treated with LPI. In the present large case series involving middle-age patients, plateau iris was the ...

Objetivo: Reportar a prevalência e os resultados terapêuticos em casos de fechamento angular por outros mecanismos além de bloqueio pupilar em uma população de pacientes brasileiros. Métodos: Realizou-se um estudo retrospectivo para avaliar pacientes apresentando ângulo oclusível submetidos à iridotomia periférica a laser (LPI), em uma única instituição, entre julho/2009 e abril/2012. Ângulo oclusível foi definido pela não observação do trabeculado posterior em mais de 180° à gonioscopia sem identação. Olhos com glaucomas secundários ou >90º de sinéquia anterior periférica foram excluídos. Foram coletados os seguintes dados: idade, raça, sexo, mecanismo de fechamento angular (com base na gonioscopia e biomicroscopia ultrassônica), pressão intraocular (PIO), número de medicações antiglaucomatosas e manejo subsequente durante o seguimento. Sempre que ambos os olhos eram elegíveis, o olho direito foi escolhido arbitrariamente para análise. Resultados: Foram incluídos 196 olhos de 196 pacientes (58,3 ± 11,6 anos) que foram submetidos à LPI. Na maioria dos casos [86% (169 pacientes; 133 mulheres e 36 homens), a LPI foi capaz de abrir o ângulo. A PIO média foi reduzida de 18,3 ± 6,4 para 15,4 ± 4,5 mmHg após a LPI (p<0,01). Entre os 27 casos que persistiram com ângulo oclusível, os mecanismos mais comuns envolvidos foram íris em platô (56%) e induzido por componente cristaliniano (34%). A maioria desses casos (85%) foram tratados com iridoplastia periférica a laser (ALPI). Aproximadamente 90% tornaram-se não oclusíveis após a ALPI (redução média da PIO de 18,9%), não havendo diferença significativa entre os pacientes com componentes de íris em platô ou cristaliniano (p=0,34; seguimento médio de 11,4 ± 3,6 meses). Conclusões: Nossos resultados sugerem que, nessa população de pacientes brasileiros, parte dos olhos com fechamento angular não foi completamente tratada com LPI. Nesta série de pacientes de meia-idade, a presença de íris em ...

Síndrome iridocorneal endotelial: presentación de un caso / Iridocorneal endothelial syndrome: a case report

Introducción: el síndrome iridocorneal endotelial es un conjunto de trastornos no hereditarios, generalmente unilateral y de evolución progresiva, que se presenta con mayor frecuencia en mujeres jóvenes o de mediana edad. Se encuentra dentro del grupo de glaucomas secundarios de causa corneal, y puede iniciarse con un glaucoma agudo, aunque el paciente puede haber notado previamente alteraciones en el iris o en la córnea. Caso clínico: se presentó el caso de una paciente femenina de 49 años de edad que acudió a la Consulta Provincial de Glaucoma de Pinar del Río con ojo derecho nulo doloroso, atrofia del iris, policoria y glaucoma secundario con hipertensión ocular marcada .Después de valorarlo de conjunto en el Servicio de Oftalmología se diagnosticó un síndrome endotelial iridocorneal. Conclusiones: el síndrome iridocorneal endotelial se observa con mayor frecuencia en el sexo femenino. Es una entidad poco frecuente dentro de las enfermedades oftalmológicas y en el grupo de los glaucomas, de muy mal pronóstico visual. Se hace necesaria la realización de más estudios que permitan obtener mayores evidencias sobre este síndrome. De vital importancia resulta la adecuada evaluación de estos pacientes, para lograr la identificación temprana y aplicar métodos oportunos de tratamiento.

Introduction: the iridocorneal endothelial syndrome is a constellation of non-hereditary disorders, generally unilateral and of progressive evolution, which more frequently present in young and middle-aged women. It is one of a group of secondary types of glaucoma of corneal cause, and it can start with a acute glaucoma, although the patient may previously have noticed alteration in the iris or the cornea. Clinical case: a 49-year-old patient presented to the Pinar del Río Province Glaucoma Department with painful blind right eye, iris atrophy, polycoria and secondary glaucoma with marked ocular hypertension. After being jointly evaluated in the Ophthalmology Service, the patient was diagnosed with the iridocorneal endothelial syndrome. Conclusions: the iridocorneal endothelial syndrome is more frequently manifested in the female sex. It is a little frequent entity among the ophthalmologic diseases and among the glaucoma group it is of very low visual prognosis. It is necessary to carry out more studies permitting to obtain greater evidences about this syndrome. The adequate evaluation of these patients is vitally important, for early diagnosis and timely treatment.

Bilateral acute depigmentation of the iris (BADI): first reported case in Brazil / Despigmentação aguda bilateral da íris (BADI): primeiro relato de caso no Brasil

Bilateral acute depigmentation of the iris (BADI) is a recently described entity characterized by acute onset of pigment dispersion in the anterior chamber, depigmentation of the iris, and heavy pigment deposition in the anterior chamber angle. Involvement is always bilateral, simultaneous, and symmetrical. We report the case of a 61-year-old man who presented with bilateral ocular pain, red eyes, and severe photophobia. Examination revealed a dense Krukenberg spindle, heavy pigment dispersion in the anterior chamber, extensive transillumination iris defects, and a heavy pigment deposition in the trabecular meshwork bilaterally. Intraocular pressure increased to 48 mmHg in both eyes. The patient received topical steroids, maximum hypotensive treatment and oral valacyclovir. Intraocular pressure gradually decreased throughout the second and third months, and medications were gradually tapered. The time to complete resolution of pigment dispersion was 18 weeks. Visual acuity and visual fields remained normal, but the photophobia was permanent.

Despigmentação aguda bilateral da íris (BADI) é uma nova doença caracterizada pela despigmentação aguda da íris, dispersão de pigmentos na câmara anterior e intensa deposição de pigmentos no seio camerular. O acometimento é sempre bilateral, simultâneo e simétrico. Relatamos o caso de um paciente de 61 anos, com dor ocular bilateral aguda, hiperemia e intensa fotofobia. Ao exame, apresentava denso fuso de Krukenberg, importante dispersão de pigmentos na câmara anterior, extensos defeitos à transiluminação iriana e densa deposição de pigmentos no seio camerular em ambos os olhos. O paciente recebeu corticoide tópico, terapia hipotensora máxima e valacyclovir oral. A pressão intraocular chegou a 48 mmHg em ambos os olhos mas foi reduzindo gradativamente ao longo do segundo e terceiro meses, permitindo a suspensão gradativa da medicação. A resolução completa da dispersão pigmentar demorou 18 semanas. A acuidade e os campos visuais permaneceram normais, mas o paciente manteve a fotofobia.

Intravítrea de triamcinolona en pacientes con rubeosis del iris: presentación de un caso / Intravitreal triamcinolone in patients with rubeosis of iridis: a case report

La rubeosis de iris es la complicación más frecuente y precoz de muchas enfermedades vasculares del segmento posterior. El manejo de la neovascularización se divideen dos aspectos: el tratamiento de la enfermedad subyacente responsable de la rubeosis y el tratamiento del incremento de la presión intraocular, si está presente. Objetivo: demostrar la efectividad de una opción terapéutica, dada por los pobres resultados con los tratamientos habituales para estas complicaciones. Caso clínico: se presenta un paciente con rubeosis de iris asociado a retinopatía diabética proliferativa; se evaluó mediante examen de mejor agudeza visual corregida, biomiscroscopia del segmento anterior y posterior, tonometría, oftalmoscopia indirecta, gonioscopia. Se realizó la clasificación de la rubeosis de iris en grados según elnúmero de cuadrantes afectados por los neovasos, grado I a grado IV, y grado V, cuando se presentó hifema, además de neovasos en todos los cuadrantes. El examen fundoscópico y la biomicroscopia del segmento posterior, fue diferido por opacidad total del cristalino que impidió ver detalles del fondo. La biomicroscopia del segmento anterior clasificó al paciente en grado V,al presentar inyección cilio conjuntival, edema corneal, hifema de 3mm coagulado, sangre fresca y neovasos en todos los cuadrantes. Conclusiones: el paciente fue tratado con inyección de intravítrea de triamcinolona, con mejoría de los síntomas y signos

Rubeosis of iris is the most frequent and precocious of many vascular diseases of the posterior segment complication. Neovascularization management is divided into twoaspects: the treatment of the subjacent disease responsible for rubeosis and the treatment of intraocular pressure increase, if present. Objective: to demonstrate the effectiveness of atherapeutic option given by poor results of usual treatments for these complications. Clinical case: a patient with rubeosis of iridis associated with proliferative diabetic retinopathy ispresented; the patient was assessed through the best corrected visual acuity examination, biomiscroscopy of the anterior and posterior segment, indirect ophthalmoscopy, tonometry andgonioscopy. Classification of rubeosis of iridis was performed in degrees according to the number of quadrants affected by neovessels, grade I to grade IV, and grade V, when hyphemawas presented, besides neovessels in all quadrants. The ophthalmoscopic examination and the posterior segment biomicroscopy were disallowed by total opacity of the lens which preventeddetails of the fundus. The anterior segment biomicroscopy ranked patient in grade V, presenting cilioconjunctival injection, and corneal edema, hyphema of 3 mm coagulated, fresh blood andneovessel in all quadrants. Conclusions: the patient was treated with intravitreal triamcinolone injection with symptoms and signs improvement

Síndrome de Waardenburg: aspectos oftalmológicos e critérios de diagnóstico: relatos de casos / Waardenburg syndrome: ophthalmic findings and criteria for diagnosis: case reports

OBJETIVO: Descrever as características clínicas e imaginológicas de duas famílias com a síndrome de Waardenburg, sendo uma do tipo I e outra do tipo II, enfatizando as manifestações oftalmológicas, bem como o padrão de herança genética. MÉTODO: Realizou-se um estudo clínico envolvendo as duas famílias afetadas pela síndrome de Waardenburg, sendo, através dos heredogramas, determinado o padrão de herança genética presente. Também foram realizadas análises oftalmológicas abordando a medida da acuidade visual, a presença de distopia cantorum (telecanto), a avaliação da coloração da íris e o mapeamento de retina, além de exames otológicos e dermatológicos. RESULTADOS: O heredograma da família afetada pela síndrome de Waardenburg tipo I revelou um modo autossômico dominante de transmissão. A condição estava presente em 85,71% dos pacientes. A distopia cantorum foi a alteração mais frequente, seguida pela mecha branca na pele da fronte, hipopigmentação da íris e da retina e surdez neurossensorial. A família com síndrome de Waardenburg tipo II apresentou 33,33% dos familiares com a alteração. Nenhum membro apresentou distopia cantorum e hipopigmentação de íris. Três pacientes apresentaram surdez neurossensorial (12,5%), associada ao topete branco e manchas acrômicas confluentes pelo corpo. CONCLUSÃO: O presente estudo mostra a importância do oftalmologista no auxílio do diagnóstico desta rara condição genética, uma vez que inclui alterações oftalmológicas como telecanto, hipopigmentação da íris e retina. A distopia cantorum é o principal critério diagnóstico para diferenciar o tipo I do II e deve ser feita por oftalmologista treinado. As famílias encontram-se em acompanhamento multiprofissional, tendo recebido orientações genéticas e os cuidados referentes à proteção ocular.

PURPOSE: To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS: We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. RESULTS: The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. CONCLUSION: This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.