Displasia frontonasal / Frontonasal dysplasia

Los trastornos del desarrollo son aquellos padecimientos que se manifiestan por defectos en la embriogénesis de la región afectada. La cara del ser humano comienza su formación alrededor de la cuarta semana de vida intrauterina y se manifiesta gracias a la fusión de cinco prominencias: dos pares conocidas como maxilar y mandibular, y una impar conocida como frontonasal. Cuando esta fusión no se lleva a cabo de una forma óptima, aparecen numerosas alteraciones del desarrollo como el labio y paladar hendido, y la displasia frontonasal. La displasia frontonasal produce frecuentemente afecciones oculares, nasales y orales. Dentro de las manifestaciones orales destacan una forma atípica de hendidura labial o palatina, afecciones dentales y alteraciones en el crecimiento de la cara. Dada la gran relación que este padecimiento tiene con la cavidad oral resulta importante que el odontólogo conozca la etiología y las características clínicas de este trastorno (AU)

Developmental disorders are those conditions that are manifested by defects in the embryogenesis of the affected region. The human face begins its formation around the fourth week of intrauterine life and is manifested thanks to the fusion of five prominences: two pairs known as maxillary and mandibular and odd one known as frontonasal. When this fusion is not carried out in an optimal way, numerous developmental alterations appear, such as cleft lip and palate and frontonasal dysplasia. Frontonasal dysplasia frequently produces ocular, nasal and oral affections. Among the oral manifestations, and atypical form of clef lip and/or palate, dental affections and alterations in the growth of the face stand out. Given the great relationship that this condition has with the oral cavity, it is important for the dentist to know the etiology and clinical characteristics of this disorder (AU)

Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Diagnóstico de adenocarcinoma pulmonar primario a partir de metástasis coroidea. Reporte de caso / Diagnosis of primary lung adenocarcinoma from choroidal metastasis. Case report

En la actualidad se cuenta con escasos reportes de casos clínicos de pacientes con metástasis coroidea sintomática como la presentación inicial de cáncer de pulmón. En este reporte describimos el caso de una paciente con adenocarcinoma de pulmón, la cual fue diagnosticada por síntomas iniciales oculares consistentes en pérdida visual progresiva y presencia de escotomas en ambos ojos, por lo que se le realizaron exámenes adicionales que llevaron al diagnóstico de cáncer de pulmón con metástasis coroidea. El pronóstico de estos pacientes es pobre, en la mayoría de los casos se trata de tumores en estadios avanzados de la enfermedad.

Currently there are few clinical case reports of patients with symptomatic choroidal metastasis as the initial presentation of lung cancer. In this report, we describe the case of a female patient with lung adenocarcinoma, who was diagnosed due to initial ocular symptoms consisting of progressive visual loss and the presence of scotomas in both eyes, so additional tests were performed leading to the diagnosis of lung cancer with choroidal metastasis.

Anoftalmia congénita bilateral: reporte de caso y revisión de la literatura / Bilateral congenital anophthalmia: clinical case report and literature review

Objetivo: Presentar un caso clínico de anoftalmia bilateral congénita y documentar lo encontrado en la literatura sobre esta condición. Diseño del estudio: Reporte de caso clínico. Método: Descripción de un caso clínico de un neonato con anoftalmia bilateral congénita nacido en el Hospital Universitario San Ignacio y que fue atendido por el servicio de oftalmología de la misma institución. Resultados: Se presenta el caso de un paciente masculino con diagnóstico de anoftalmia congénita bilateral y atresia tricuspídea con vasos en D-transposición con coartación aórtica, sin otras malformaciones asociadas ni factores ambientales desencadenantes. Esta es una patología poco frecuente, cuya etiología y procesos fisiopatológicos no se conocen aún en su totalidad. Es relevante continuar el seguimiento y los procesos diagnósticos para esclarecer su proceso de desarrollo y la totalidad de malformaciones complejas con las que puede encontrarse en asociación

Objective: To present a clinical case of congenital bilateral anophthalmia and document what is found in the literature on this entity. Study design: Clinical case report. Method: Description of a clinical case of a neonate with congenital bilateral anophthalmia that was born at the Hospital Universitario San Ignacio and who was treated by the Ophthalmology service in the same institution. Results: We present the case of a male patient with a diagnosis of bilateral congenital anophthalmia and tricuspid atresia with vessels in D-transposition with aortic coarctation, without other associated malformations or environmental risk factors. This is a rare pathology, of which etiology and pathophysiological processes are not yet fully understood. It is relevant to continue follow up and diagnostic processes to clarify its development processes and the entirety of complex malformations with which it can be in association with

Efectividad de la cirugía monocular en la exotropía sensorial de gran ángulo / Effectiveness of the surgery monocular in the sensorial exotropia of great angle

La exotropía sensorial se define como una desviación ocular divergente unilateral o bilateral, dada por anomalías oculares congénitas o adquiridas; es más frecuente en adultos. El objetivo de la cirugía de estrabismo en el adulto es restablecer la visión binocular, reduciendo la diplopía y al lograr el alineamiento ocular, mejorar su estética, por lo que antes de realizar la cirugía se debe tratar la causa que provoca la baja visión. El procedimiento quirúrgico de elección es la cirugía monocular, pero si la desviación es grande se realizará cirugía binocular. Se presenta una paciente femenino de 25 años de edad portadora de lentes de contacto por miopía elevada del ojo derecho (9,00 -0.75 x 105º con 0,2 de agudeza visual mejor corregida), exotropía de más de 25º por Hirschberg, limitación de aducción del ojo derecho y por método de oclusor y prismas a 6 metros sin cristales y con sus lentes de contacto, ambos ojos 50 ∆ b interna, no estereopsia y suprime ojo derecho. Por todas las ventajas que presenta la cirugía monocular, se decidió realizarla en el ojo derecho, se colocó anestesia local peribulbar, se realizó recesión amplia del recto lateral a 12 mm y se realizó 8 mm de resección del recto medial; en el postoperatorio se logró 10 ∆ b interna y por momentos ortotropia; refirió diplopía post quirúrgica que resolvió espontáneamente. Los resultados quirúrgicos en la exotropía sensorial son menos alentadores ya que con el tiempo pueden evolucionar hacia la hipercorrección o hacia la recurrencia(AU)

Sensory exotropía is defined as a unilateral or bilateral divergent ocular deviation, given by congenital or acquired ocular anomalies, and is more frequent in adults. The objective of the strabismus surgery in adults is to reestablish binocular vision, reduce diplopía, improve ocular alignment and enhance quality of life; before performing surgery the cause of low vision should be treated. The preferred surgical procedure is a monocular approach, but if there is a large deviation a binocular procedure should be performed. The case presented Is a 25 year-old female with high myopia of the right eye (-9.00 -0.75 x 105º with 0.2 of best corrected visual acuity), exotropía of more than 25º for Hirschberg, limitation of aducción of the right eye and with both the oclusor method and prisms to 6 meters without glasses and with her contact lenses, both eyes have 50∆ of internal base, no estereopsia and suppression of the right eye. For its advantages a monocular approach (of the right eye) was preferred, with peribulbar anesthesia: recession to 12mm of the lateral rectus combined with 8 mm of resection of the medial rectus; in the postoperative she presented a 10∆ intern base deviation and for moments ortotropia; she referred diplopia that solved spontaneously. The surgical results in sensory exotropía are less encouraging since they have higher hypercorrection and recurrence rates(AU)

Prevalência de alterações oculares em lactentes no primeiro ano de vida / Prevalence of ocular alterations in infants in the first year of life

Objetivo: Analisar a prevalência de anormalidades oculares em um grupo de lactentes e descrever quais delas não seriam detectadas pelo teste do reflexo vermelho (TRV); analisar os aspectos críticos para o cuidado das anormalidades oculares encontradas. Introdução: Dados globais em relação à prevalência e causas de alterações oculares são escassos, em função da dificuldade de realizar trabalhos de base populacionais. Estima-se que atualmente existam cerca de 1.4 milhões de crianças com deficiência visual em todo o mundo e que metade dos casos sejam atribuídos à causas que têm prevenção ou tratamento. A deficiência visual na infância tem impacto direto sobre todos os aspectos do desenvolvimento infantil. O TRV é um método de rastreio de alterações na transparência dos meios oculares implementado no estado do Rio de Janeiro desde 2002. Ele tem auxiliado na prevenção da deficiência visual na infância, através da detecção precoce de alterações na transparência dos meios oculares. Métodos: Foi realizado um estudo transversal, dentro de um estudo de coorte prospectivo que avaliou mulheres gestantes e seus recém-nascidos (ZIP Study International Cohort Study of Children Born to Women Infected with Zika Virus During Pregnancy). As gestantes do estudo original foram recrutadas em 8 clínicas da família do município do Rio de Janeiro e seus recém-nascidos foram submetidos a um exame oftalmológico no primeiro ano de vida. Foi realizado o exame externo para avaliação das pálpebras, esclera, córnea, conjuntiva e cristalino, além da avaliação da motilidade extra ocular e oftalmoscopia indireta para avaliação do fundo de olho sob midríase. Foi feita uma análise descritiva e da prevalência das alterações oculares encontradas, analisando quais delas trariam comprometimento ao desenvolvimento visual e necessitariam de acompanhamento oftalmológico até resolução total do quadro. Além disso, quais dessas alterações não seriam detectadas apenas com o exame de rastreio disponível atualmente, o TRV. A refração, apesar de ter sido realizada durante a avaliação dos lactentes, não foi analisada. A partir das análises realizadas, foi feita uma avaliação dos aspectos críticos para o cuidado das alterações encontradas. Resultados: Foram avaliados 561 lactentes entre 09/03/2017 e 27/02/2019. A mediana de idade dos lactentes foi 1 mês (IQR 25-75: 1-2 meses). A prevalência de alterações oculares encontradas ao exame oftalmológico nos lactentes foi 5,7% (32/561), sendo 1,6% (9/561) passíveis de identificação pelo TRV. Todas as anormalidades posteriores e as que demandam a dilatação das pupilas para o seu diagnóstico não foram detectadas pelo TRV. Estas correspondem a 72% (23/32) de todas as alterações oculares encontradas. E foram elas: sinéquia posterior de íris, hipoplasia de nervo óptico, relação escavação/disco óptico aumentada, palidez de disco óptico bilateral, hemorragia retiniana, atenuação vascular, anormalidades da mácula e retinopatia da prematuridade. Noventa e quatro por cento (30/32) dos lactentes que apresentaram alteração ao exame precisaram de encaminhamento para acompanhamento oftalmológico. Conclusão: O TRV não identifica as alterações do segmento posterior do olho, que representam a maioria das anormalidades encontradas e que, apesar de não necessitarem de cirurgia, precisam de acompanhamento.

Purpose: To analyze the prevalence of ocular abnormalities in a group of infants, to describe those that would not be detected by the red reflex test (RRT) and to analyze the critical aspects for the care of eye abnormalities. Introduction: Global data regarding the prevalence and causes of ocular alterations are scarce, due to the difficulty of carrying out population-based studies. It is estimated that there are currently around 1.4 million children with visual impairment worldwide and that half of the cases are attributed to causes that are preventable or treatable. Visual impairment in childhood has a direct impact on all aspects of child development. RRT is a method of tracking changes in the transparency of ocular means implemented in the state of Rio de Janeiro since 2002. It has helped to prevent visual impairment in childhood, through the early detection of changes in the transparency of ocular means. Methods: A cross-sectional study was carried out within a prospective cohort study that evaluated pregnant women and their newborns (ZIP Study- International Cohort Study of Children Born to Women Infected with Zika Virus During Pregnancy). The pregnant women in the original study were recruited from 8 "Clínicas da Família" in the city of Rio de Janeiro and their newborns underwent an eye examination in the first year of life. An external examination was performed to assess the eyelids, sclera, cornea, conjunctiva and lens, in addition to the evaluation of extraocular motility and indirect ophthalmoscopy to evaluate the fundus of the eye under pupillary dilation. From the collected data, a descriptive analysis was made and t prevalence of ocular abnormalities found in the infants who participated in the study, analyzing which ones would compromise the visual development and would need ophthalmological follow-up until full resolution of the condition. Furthermore, which of these abnormalities would not be detected only by the screening test currently available, the RRT. Despite having being performed, the refraction was not analized. From the analyzes carried out, an assessment of the critical aspects for the care of the abnormalities found was carried out. Results: 561 infants were evaluated between 03/09/2017 to 02/27/2019. The infants' median age was 1 month (IQR 25-75: 1-2 months) and the prevalence of ocular abnormalities found on ophthalmological examination was 5.7% (32/561). The prevalence of ocular abnormalities detected by RRT in the study was 1.6% (9/561). All posterior abnormalities and those that require pupil dilation for diagnosis were not detected by the RRT. These correspond to 72% (23/32) of all ocular abnormalities. These were: posterior iris synechia, optic nerve hypoplasia, increased cup/optic disc ratio, bilateral optic disc pallor, retinal hemorrhage, vascular attenuation, macular abnormalities, and retinopathy of prematurity. Most ocular abnormalities, even transient ones with a potential for benignity, need ophthalmological follow-up until the complete resolution of the condition. In the study, 94% (30/32) of the infants who presented abnormalities on the exam needed to be referred for ophthalmological follow-up.

Coexistence of Straatsma syndrome without macular extension and abnormal ellipsoid zone / Coexistência da síndrome de Straatsma sem extensão macular e zona elipsoide anormal

ABSTRACT Myelinated retinal nerve fibers are rare congenital anomalies that appear as gray-white patches. They may be present in a syndrome characterized by ipsilateral myelinated retinal nerve fibers, myopia and amblyopia. The author reported an ellipsoid zone defect on spectral domain optical coherence tomography in a case of Straatsma syndrome without macular extension.

RESUMO Fibras nervosas retinais mielinizadas são anomalias congênitas raras que aparecem como manchas branco-acinzentadas. Eles podem se apresentar em uma síndrome caracterizada por fibras nervosas retinais mielinizadas ipsilaterais, miopia e ambliopia. O autor relatou um defeito na zona elipsoide na tomografia de coerência óptica de domínio espectral em um caso de síndrome de Straatsma sem extensão macular.

Caracterización de pacientes con cavidad anoftálmica en un centro médico en Colombia, en 10 años / Characterization of patients with anophthalmic cavity in a medical center in Colombia, in 10 years

Objetivo: Caracterizar a pacientes con anoftalmos atendidos en el Hospital Militar Central durante los años 2009 y 2020. Diseño: Estudio observacional, descriptivo, de tipo corte transversal. Metodología: Se incluyeron pacientes de cualquier sexo y edad atendidos entre los años 2009 y 2020 en el Hospital Militar Central de Bogotá, Colombia, con diagnóstico de anoftalmos congénito o por cirugía de evisceración, enucleación o exenteración. Se llevó a cabo un muestreo no probabilístico y los datos fueron analizados mediante estadística descriptiva y un análisis de correspondencias múltiples. Resultados: Se incluyeron 180 pacientes, de los cuales el 73.9% era de sexo masculino y el 41.7% tenía entre 27-59 años. Las etiologías más frecuentes fueron trauma en el 56.1% de los casos, seguido por causas médicas en el 40.6%. De las intervenciones realizadas, la evisceración fue el más común (81%). Se encontró una correlación entre el tipo de intervención con la edad del paciente, la lateralidad y la etiología (p < 0.01). Conclusión: El trauma ocular permanece como la mayor causa de anoftalmos quirúrgico. En la mayoría de los casos se trataron de hombres adultos a quienes se les realizó evisceración. Se requieren otros estudios para identificar las características de la población colombiana con cavidades anoftálmicas.

Objective: To characterize patients with anophthalmic sockets treated at the Hospital Militar Central from 2009 until 2020. Design: Observational, descriptive, cross-sectional study. Methods: We included patients of any sex and age treated from 2009 to 2020 at the Hospital Militar Central de Bogotá, Colombia, with a diagnosis of congenital anophthalmos, or by evisceration, enucleation, or exenteration surgery. We analyzed data through descriptive statistics and multiple correspondence analysis. Results: 180 patients were included, of which 73.9% were male, and 41.7% were between 27-59 years old. The most frequent etiologies were trauma in 56.1% of the cases, followed by medical causes in 40.6%. Of the interventions carried out, evisceration was the most common (81%). A correlation was found between the type of intervention and the patient's age, laterality, and etiology (p < 0.01). Conclusion: Ocular trauma remains to be the primary cause of surgical anophthalmos. Most cases were adult men who underwent evisceration. Other studies are required to identify the characteristics of the Colombian population with anophthalmic sockets

Quiste de iris. A propósito de un caso / Iris cysts. About a case

Introducción: Los quistes de iris son lesiones benignas encapsuladas de contenido líquido que se pueden localizar en el epitelio pigmentario del iris o en su estroma, se clasifican de acuerdo con su etiología en primarios cuando no tienen una causa conocida y secundarios cuando se forman como consecuencia de traumatismos, fármacos, tumores malignos, uveítis, parásitos o trastornos sistémicos.Los síntomas incluyen obstrucción del eje visual, visión borrosa e incluso descompensación corneal, el diagnóstico se realiza mediante la observación directa a través de la lámpara de hendidura y con estudios de imagen como la ultrasonografía, una vez establecido el diagnóstico su tratamiento sigue siendo controversial e incluyen iridectomía, drenaje del conteni-do quístico, uso de láser argón y YAG láser.Presentación del caso: Paciente femenina de 28 años con antecedente de traumatismo ocular derecho, posteriormente presenta lesión quística en iris, valorada mediante biomicroscopía y estudios de imagen (ultrabiomicroscopía), confirmando el diagnóstico de quiste de iris, para lo cual se realiza drenaje quirúrgico con evolución favorable. Conclusión: Los quistes de iris son lesiones poco frecuentes que podrían comprometer el campo visual dependiendo de su localización y tamaño por lo que el drenaje quirúrgico del contenido quístico iridiano es una opción terapéutica eficaz.

Introduction: Iris cysts are benign encapsulated lesions of liquid content that can be located in the pigment epithelium of the iris or in its stroma, they are classified according to their etio-logy as primary when they do not have a known cause and secondary when they form as a consequence from trauma, drugs, malignant tumors, uveitis, parasites or systemic disorders.Symptoms include visual axis obstruction, blurred vision and even corneal decompensation. The diagnosis is made by direct observation through the slit lamp and with imaging studies such as ultrasonography. Once the diagnosis is established, its treatment remains contro-versial and include iridectomy, drainage of cystic contents, use of argon laser and YAG laser.Case presentation: A 28-year-old female patient with a history of right ocular trauma, subse-quently presenting a cystic lesion in the iris, assessed by biomicroscopy and imaging studies (ultrabiomicroscopy) confirming the diagnosis of iris cyst, for which surgical drainage was performed with a favorable evolution.Conclusion: Iris cysts are rare lesions that could compromise the visual field depending on their location and size, which is why surgical drainage of the iris cyst content is an effective therapeutic option.

Inyección de gas intravítreo combinada con fotocoagulación con láser de argón para el tratamento de la maculopatía de la foseta del disco óptico sin vitrectomía / Intravitreal gas injection combined with argon laser photocoagulation for treatment of optic disc pit maculopathy without vitrectomy

RESUMEN Presentamos el caso de un paciente con foseta del disco óptico, quien presentó una disminución de la agudeza visual secundaria a desprendimiento seroso de retina. Se decidió realizar una inyección intravítrea de 0.3ml de gas C3F8 (100%), seguida de fotocoagulación con láser de argón en el borde temporal de la foseta, logrando reaplicación total de la retina, con reabsorción de todo el líquido subretiniano visible en la tomografía de coherencia optica (OCT) luego de 400 días. Además hubo una mejoría significativa en la agudeza visual.

ABSTRACT We present the case of a patient with an optic disk pit, presenting with great loss of visual acuity secondary to serous retinal detachment. The management chosen was an intravitreal injection of 0.3 mL of C3F8 (100%), followed by argon laser photocoagulation on the temporal edge of the pit, ), achieving total retinal reattachment , and reabsorption of all subretinal fluid visible at optical coherence tomography after 400 days, in addition to great improvement in visual acuity.

Importância do diagnóstico diferencial de olho vermelho não traumático na atenção primária: uma revisão da literatura / Importance of differential diagnosis of non-traumatic red eye in primary care: a literature review

O olho vermelho é uma queixa oftalmológica frequente na atenção primária à saúde. Neste contexto, o objetivo desta revisão é descrever as principais patologias relacionadas a esse sinal na prática clínica, a fim de auxiliar os profissionais de saúde no diagnóstico, na condução dos casos, e na tomada de decisões quanto à necessidade de encaminhamento ao especialista. A maioria dos casos são benignos, porém, alguns apresentam risco de complicações e perda visual.

The red eye is a frequent eye complaint in primary health care. In this context, the objective of this review is to describe the main pathologies related to this sign in clinical practice, in order to assist health professionals in the diagnosis, in the management of cases, and in making decisions regarding the need for referral to the specialist. Most cases are benign, however, some are at risk of complications and visual loss.

Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.@*METHODS@#Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).@*RESULTS@#WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.@*CONCLUSION@#The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.

Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Laser topoguiado como redutor de aberrações ópticas pós ceratotomia radial e LIO multifocal / Topoguided laser as a reducer of optical aberrations after radial keratotomy and multifocal LIO

Resumo A cirurgia de catarata com implante de lente intra-ocular é uma das cirurgias mais realizadas no mundo e, atualmente, os pacientes que se submetem a essa cirurgia podem utilizar o implante com lente intraocular (LIO) multifocal como alternativa ao uso de óculos. Um grande desafio para o cirurgião são os pacientes já submetidos previamente a ceratotomia radial (RK), pois além de terem um cálculo biométrico mais desafiador, apresentam importantes aberrações ópticas corneanas, sendo uma contra-indicação para o uso de lentes multifocais para a maioria dos oftalmologistas. Neste artigo, relatamos o caso de uma paciente que foi submetida, na juventude, a uma RK e passou a referir importante incômodo visual após a correção de catarata com facectomia e implante de LIO multifocal. Esta paciente foi submetida a uma ceratectomia fotorrefrativa (PRK) para diminuir as irregularidades da córnea com boa evolução clínica e resultado visual satisfatório. Esse caso chama a atenção para a alternativa do excimer laser topoguiado em casos semelhantes e alerta para o risco do uso desse tipo de lente em córneas irregulares.

Abstract Cataract surgery with intraocular lens implantation is one of the most commonly performed surgeries in the world and, currently, patients who undergo this surgery can use the multifocal intraocular lens (IOL) implant as an alternative to wearing glasses. A great challenge for the surgeon are patients who have previously undergone radial keratotomy (RK), because in addition to having a more challenging biometric calculation, they also have important corneal optical aberrations, being a contraindication for the use of multifocal lenses for most patients. ophthalmologists. In this article, we report the case of a patient who underwent a RK in her youth and started to report an important visual discomfort after cataract correction with facectomy and multifocal IOL implantation. This patient underwent a photorefractive keratectomy (PRK) to reduce corneal irregularities with good clinical evolution and satisfactory visual result. This case draws attention to the alternative of topography-guided laser excimer in similar cases and warns of the risk of using this type of lens in irregular corneas.

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome / Anomalia de Morning Glory associada à extenso hemangioma infantil como apresentação da Síndrome PHACE

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

Causes of congenital corneal opacities and their management in a tertiary care center / Causas de opacidades corneanas congênitas e seu controle em um centro de cuidados terciários

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Inverted internal limiting membrane flap for the management of optic disc pit maculopathy / Técnica do flap invertido da membrana limitante interna para o manejo da maculopatia causada pela fosseta do disco óptico

ABSTRACT Optic disc pit is a rare congenital anomaly that can cause serous macular detachment. It has no universally accepted single treatment. Recently, several investigators have performed new procedures to directly seal the pit. Herein, we report a case showing a promising method for optic pit maculopathy surgical treatment. We created an inverted internal limiting membrane flap and fold it over the pit to promote barrier in order to stop further fluid accumulation. Gradual absorption of subretinal fluid was observed over 12 months of follow-up. Optical coherence tomography can demonstrate internal limiting membrane folded over the pit and progressive subretinal fluid resolution. This technique resulted in a satisfactory anatomic outcome with good functional improvement in the best-corrected visual acuity.

RESUMO A fosseta do disco óptico é uma rara anomalia con gênita que pode causar descolamento de retina seroso na mácula. Não há um tratamento cirúrgico padrão universalmente aceito. Recentemente, cirurgiões têm realizado procedimentos novos que visam selar o buraco diretamente. Esse caso clínico mostra um método promissor para o tratamento cirúrgico da maculopatia causada pela fosseta do disco. Optamos por criar um flap invertido com a membrana limitante interna, dobrando-o sobre a fosseta para promover uma barreira, impedindo o acúmulo de fluido. A absorção gradual do líquido subretiniano foi observada ao longo de 12 meses de acompanhamento. Imagens de tomografia de coerência óptica podem demonstrar a membrana limitante interna dobrada sobre a fosseta e a resolução progressiva do fluido subretiniano. Esta técnica resultou em um resultado anatômico satisfatório com boa melhora funcional na acuidade visual.

Anestesia total intravenosa libre de opioides en un paciente con síndrome de Joubert: caso clínico / Opioid free total intravenous anesthesia in Joubert syndrome: Case report

Joubert syndrome (JS) is a rare autosomal recessive disorder characterized by abnormal eye movements, respiratory pattern abnormalities, anatomical airway alterations, mental retardation and hypoplasia/aplasia of the cerebellar vermis confirmed by magnetic resonance imaging. This case report describes the successful management of a patient with JS operated of cholesteatoma under 100% opioid-free total intravenous general anaesthesia. We also provide a brief review of JS, its anaesthetic implications and opioid-free anaesthesia (OFA) technique.

El síndrome de Joubert (SJ) es una enfermedad autosómica recesiva poco frecuente caracterizada por trastornos oculares, respiratorios, alteraciones anatómicas de la vía aérea, retraso mental e hipoplasia/aplasia del vermis cerebeloso constatada mediante resonancia magnética. Presentamos un caso exitoso de paciente con SJ operado de colesteatoma bajo anestesia general endovenosa total 100% libre de opioides. Asimismo, realizamos una breve revisión del SJ, sus implicaciones anestésicas y de la técnica de anestesia libre de opioides.