Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

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.

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.

Update and review of Urrets-Zavalia syndrome / Atualizando e revisando a síndrome de Urrets-Zavalia

ABSTRACT For more than half a century, Urrets-Zavalia syndrome (fixed dilated pupil) has been described as a postoperative complication of ophthalmic surgery. Since first reported as a complication of penetrating keratoplasty for keratoconus in patients receiving atropine, the characteristic features of Urrets-Zavalia syndrome have been expanded. In previous literature, a total of 110 cases resulted in a fixed and dilated pupil. Increased intraocular pressure (IOP) in the immediate postoperative period, phakia, and air or gas in the anterior chamber appear to be the most important risk factors for Urrets-Zavalia syndrome following ophthalmic procedures. Mannitol, IOP control, the removal of air or gas in the anterior chamber, and iridectomy have all demonstrated utility in managing Urrets-Zavalia syndrome.

RESUMO Por mais de meio século, a síndrome de Urrets-Zavalia (pupila fixa e dilatada) foi descrita como uma complicação pós-operatória em oftalmologia. Desde o primeiro relato após ceratoplastia penetrante em pacientes portadores de ceratocone em uso de atropina, seu conceito foi ampliado. Na literatura, um total de 110 casos resultaram em pupila fixa e dilatada. Aumento da pressão intraocular (PIO) no pós-operatório imediato, facia, ar ou gás na câmara anterior parecem ser fatores de risco importantes para o aparecimento da síndrome. Sua prevenção pode ser alcançada com o uso de manitol, controle adequado da PIO e quantidade de ar ou gás na camâra anterior e iridectomia.

Late recurrent iris synechia following laser goniopuncture for deep sclerectomy enhancement: case report / Sinéquia iriana tardia após goniopunctura a laser para esclerectomia profunda não penetrante: relato de caso

We report a case of recurrent iris synechiae one year after Nd:YAG laser goniopuncture for deep sclerectomy enhancement in the only functional eye of a patient with end-stage glaucoma. The possible pathophysiology of this uncommon complication and laser treatment aspects are discussed.

A ocorrência de sinéquias irianas após goniopunctura a laser com finalidade de aumentar a filtração após esclerectomia não penetrante é evento raro e que pode levar à crise glaucomatosa aguda e suas consequências. Relatamos a ocorrência deste evento em olho único de paciente portadora de glaucoma em estágio final, um ano após a realização de goniopunctura. Os possíveis mecanismos fisiopatológicos desta complicação incomum, assim como aspectos do tratamento a laser para reverter o quadro são discutidos.

Evaluation of blotchy pigments in the anterior chamber angle as a sign of angle closure.

Background: Blotchy pigments in the anterior chamber (AC) angle are considered diagnostic of primary angle closure (PAC). But there are no reports either on the prevalence of blotchy pigments in AC angles or the validity of this sign. Aims: To determine the prevalence of blotchy pigments in AC angles and to evaluate their relationship with glaucomatous optic neuropathy (GON) in eyes with occludable angles. Setting and Design: Cross-sectional, comparative study. Materials and Methods: Gonioscopy was performed in 1001 eyes of 526 subjects (245 eyes of 148 consecutive, occludable angle subjects and 756 eyes of 378 non-consecutive, open angle subjects), above 35 years of age. Quadrant-wise location of blotchy pigments was documented. Statistical Analysis: Odds of blotchy pigments in occludable angles against that in open angles were evaluated. Relationship of GON with blotchy pigments in occludable angle eyes was evaluated using a multivariate model. Results: Prevalence of blotchy pigments in occludable angles was 28.6% (95% CI, 22.9-34.3) and in open angles was 4.7% (95% CI, 3.2-6.3). Blotchy pigments were more frequently seen in inferior (16%) and superior quadrants (15%) of occludable angles, and inferior quadrant of open angles (4%). Odds of superior quadrant blotchy pigments in occludable angles were 33 times that in open angles. GON was seen in 107 occludable angle eyes. Blotchy pigments were not significantly associated with GON (odds ratio = 0.5; P = 0.1). Conclusions: Blotchy pigments were seen in 28.6% of occludable angle eyes and 4.7% of open angles eyes. Presence of blotchy pigments in the superior quadrant is more common in occludable angles. Presence of GON in occludable angle eyes was not associated with blotchy pigments.

Atrofia de íris após tratamento estético facial com luz intensa pulsada / Iris atrophy after aesthetic treatment with intense pulsed light

Relato de um caso de complicação ocular, em consequência do uso de luz intensa pulsada, para tratamento facial cosmético. A lesão consistiu em atrofia iriana no setor temporal, com grande área de transiluminação, sinéquias posteriores, deformidade e redução da dilatação pupilar. O objetivo é alertar para os riscos do procedimento para os olhos, caso não sejam tomadas as medidas adequadas de proteção ocular.

The authors report a case of ocular complication, following Intense Pulsed Light for cosmetic facial treatment.The lesion was iris atrophy with a large transilumination area, posterior synechiae, deformity and reduced dilation of the pupil, on the temporal side. The aim is to alert for the risk of ocular lesion related to this procedure, if adequate measures to protect the eyes are not taken.

Pupila dilatada fixa (síndrome de Urrets-Zavalia) após ceratoplastia lamelar profunda / Fixed dilated pupil (Urrets-Zavalia syndrome) after deep lamellar keratoplasty

A Síndrome de Urrets-Zavalia apresenta achados oculares bem descritos, porém sua fisiopatologia ainda é incerta. A isquemia iriana é o mecanismo proposto mais comum. Descrevemos dois casos submetidos à ceratoplastia lamelar profunda (CLP) realizadas pelo mesmo cirugião que desenvolveram a síndrome. No primeiro caso, a indicação cirúrgica foi para o tratamento de opacidade corneana e, no segundo, para o de ceratocone. No pós-operatório, ambos os pacientes evoluíram com pupila dilatada fixa que não regrediu totalmente apesar do tratamento administrado.

The Urrets-Zavalia Syndrome presents well described ocular findings, even though its physiopathology is still unsure. Iris ischemia is the most common proposing mechanism. We describe two cases that underwent deep lamellar keratoplasty (DLK) performed by the same surgeon and developed the syndrome. In the first case, the surgical indication was for corneal opacity treatment and, in the second case, for keratoconus treatment. During the post-operatory, both patients developed fixed dilated pupil, which didn't regress completely inspite of the onset treatment.

Corneal edema following diode laser cyclophotocoagulation in an eye with secondary glaucoma.

A 70-year-old man had undergone a complicated cataract extraction followed by repair of iris prolapse ending up with secondary glaucoma. Refusing routine filtering surgery, patient underwent contact transconjunctival diode laser cyclophotocoagulation. This report highlights the occurrence of corneal edema restricted to the inferior half of cornea following a diode laser cyclophotocoagulation performed in the inferior 180 degrees. The necessity to perform a routine specular microscopy in all such cases is highlighted, especially in eyes with good visual acuity.

A Case of Epithelial Inclusion Cyst of Iris

To report on an epithelial inclusion cyst of the iris that was successfully treated with needle aspiration and Ab externo laser photocoagulation. A 6-year-old boy was treated for a 6.0 mm fluid-filled cyst in the anterior chamber of the right eye. Thirteen months previously, he had undergone primary closure of a 6 mm full-thickness corneal laceration. The subsequent cyst was diagnosed as an epithelial inclusion cyst of the iris. His vision decreased to finger-count at 30 cm as the cyst grew over the pupil. We performed needle aspiration of the cyst and Ab externo laser photocoagulation of the cyst wall. The treated lesion was completely removed. The patient's visual acuity recovered to 20/40 without complications. There was no recurrence as determined by slit lamp examination up to 6 months after treatment. Needle aspiration and Ab externo laser photocoagulation can be used to effectively treat epithelial inclusion cysts of the iris.

Manejo del síndrome de iris laxo intraoperatorio en la cirugía de cataratas / Management of intraoperative floppy iris syndrome in the cataract surgery

El síndrome de iris laxo intraoperatorio se caracteriza por una tríada de signos: ondulación, prolapso, y miosis progresiva. Este síndrome puede observarse en pacientes que serán sometidos a cirugía de catarata y son portadores de hiperplasia prostática benigna u otra patología tratada con alfabloqueadores sistémicos. Si el oftalmólogo tiene conocimiento de esta terapia puede planificar una estrategia quirúrgica adecuada y de esta manera disminuir la tasa de complicaciones.

The intraoperative floppy iris syndrome is characterized by a triad: wave, prolapse of the iris, and progressive miosis. This syndrome can be observed in patients that will undergo cataract surgery, who are carriers of benign prostatic hyperplasia or another pathology treated with systemic alphablockers. If the ophthalmologist is acquainted with this therapy, he/she may design a suitable surgical strategy to reduce complications after surgery.

Ocular manifestations of congenital rubella syndrome in a developing country.

PURPOSE: To describe the ocular manifestations of congenital rubella syndrome (CRS), a common cause of congenital cataracts in developing countries. METHODS: Retrospective analysis of case records of 46 sero-positive infants under 12 months of age who presented at Aravind Eye Hospital, Madurai between July 1993 and February 2001. The ocular and systemic examination details were recorded. RESULTS: Both eyes were affected in 41 (89%) patients. Cataract was present in 81 (93.1%) eyes; most of them were nuclear cataract (79, 97.5%). Other common ocular presentations included microphthalmos in 74 (85.1%) eyes, iris abnormalities in 51 (58.6%) eyes, and pigmentary retinopathy in 33 (37.9%) eyes. Cataract, microphthalmos and iris hypoplasia was a common combination present in 49 (56.3%) eyes. Systemic manifestations included cardiac anomalies in 23 (50%) and neurological anomalies in 16 (34%) children. Multi-system involvement was present in 32 (70%) children. Low birth weight (below 2 kg) was seen in 30% infants. CONCLUSION: CRS may present with a wide spectrum of ocular and systemic findings and requires a high index of suspicion for diagnosis. Any sick infant with unilateral or bilateral congenital cataract should be investigated thoroughly for CRS.

Rubeosis capsulare: um caso incomum de rubeosis iridis em paciente com implante de lente intra-ocular: relato de caso / Rubeosis capsulare: an unusual case of rebeosis iridis in a patient with posterior intraocular lens implnatation: case report

Os autores relatam o caso raro de paciente diabético com rubeosis iridis submetido à cirurgia de catarata com implante de lente intra-ocular, em que houve o crescimento de neovasos na cápsula posterior do cristalino.

Infiltración leucémica del iris reporte de dos casos / Leukemic infiltration of the iris. Two cases report

Se presentan dos casos clínicos de leucemia linfoblástica aguda que se encontraban en remisión y su recaída se presentó en el ojo a través de una infiltración leucémica del iris que se manifestó como una uveítis anterior que evolucionó en uno de los casos a glaucoma. Ambos se trataron satisfactoriamente con radioterapia local

Clinical ocular study in leprosy patients at a sanitary dermatological hospital in Brazil.

This study is based upon the observation f 363 leprosy patients having different types of the disease. At the time of the examination, we did not have any previous knowledge about the type of leprosy the patients were having. Thus, the eye examination was done without the knowledge of clinical diagnosis. The ocular examination protocol covered the following: visual activity, facial muscle function, eyebrows, eyelashes, lacrimal system, pupil, eye motility, corneal sensitivity, Schirmir's test and study of the anterior segment of the ocular bulb with a slit-lamp. The study patients included 275 cases of lepromatous leprosy, 57 tuberculoid, 29 indeterminate and two dimorphous cases. The age of the patients ranged between 18 and 82 years, and 229 of them were males. Among those patients, 183 were whites, 23 were black and 157 were mulatto.

Síndrome de Menkes: novos achados oculares / Menkes syndrome: new ocular findings

A Síndrome de Menkes é uma desordem neurodegenerativa progressiva ligada ao cromossona X; uma mutaçäo no gene de Menkes (MNK) causa a doença por alterar o transporte de cobre do citosol para as organelas celulares. Apesar da síndrome näo ser rara, o diagnóstico é raramente feito em nosso meio. Déficit de crescimento, convulsöes e um cabelo peculiar säo achados precoces da síndrome. A visäo deteriora a despeito de um exame ocular praticamente normal. Sem tratamento, os pacientes raramente sobrevivem além de três anos de idade. Foram estudadas as manifestaçöes oculares em três pacientes com a Síndrome de Menkes e adicionadas hipoplasia do estroma anterior da íris e cílios aberrantes como novas manifestaçöes da doença. Uma vez familiarizados com esta síndrome, os oftalmologistas teräo um grande papel no seu diagnóstico precoce e seu eventual tratamento

Resultados visuais e incidência de complicaçöes em facoemulsificaçäo com LIO por residentes / Visual results and complications of phacoemulsifications with intraocular lens implantation performed by residents

Os autores analisaram retrospectivamente a evoluçäo visual e a incidência de complicaçöes em 48 olhos submetidos à facoemulsificaçäo por 4 residentes do terceiro ano. Em todos os casos foi implantada uma lente de 7,0mm de zona óptica com a supervisäo de um assistente. As incidências de rotura de cápsula posterior e perda vítrea foi 6,25 p/cento (2/48) e 10,40 p/cento (5/48), respectivamente. O momento da rotura capsular ocorreu em 60 p/cento dos casos (3 pacientes) durante a emulsificaçäo do núcleo e em 2 (40 p/cento) olhos ao se aspirar o córtex automaticamente. A acuidade visual foi 20/40 em 89,60 p/cento dos casos com folow-up médio de 5,4 meses. Estes resultados säo comparáveis ao desempenho de residentes fazendo extra-capsular publicado em trabalhos anteriores. Nós acreditamos que, com treinamento apropriado e supervisäo de cirurgiöes

Haptic hump of the Iris

A 69-year-old man developed a forward hump of the peripheral iris three months following an [in-the-bag] posterior chamber intraocular lens implantation in his right eye. Other than a slight pupillary distortion, the iris humping caused no complication. The vision and intraocular pressure have remained normal during three years of postoperative observation. However, the possibility of formation of peripheral anterior synechiae in the future with resultant angle-closure must not be ignored. The forward humping of the iris periphery is thought to be due to a forward bowing of the anteriorly vaulted haptic that is also under relatively greater tension due to its being in the capsular bag instead of the ciliary sulcus. Hence, this complication appears to be related to [in-the'bag] implantation

Pupillary automatism.

An unusual case of cyclic pupillary movements in an otherwise complete oculomotor nerve palsy in a five year-old girl is reported. This is considered to be due to destruction of somatic and visceral nuclei of the oculomotor nerve following injury to its fascicular part. Pupillary automatism has been explained on the basis of the presence of aberrant autonomic cells in the ciliary ganglion which are discharging in a regular rhythm independent of higher control.