A Case of Congenital Simple Hamartoma of the Retinal Pigment Epithelium and Coats' Disease in the Same Eye

No abstract available.

Intravitreal bevacizumab in congenital retinal macrovessel with retinal arteriolar macroaneurysm

Congenital retinal macrovessel [CRM] refers to an aberrant vessel, usually a vein, which traverses the macula and supplies both sides of the horizontal raphe. It is a rare condition, mostly asymptomatic and discovered on routine examination. We describe a case of both arterial and venous CRM with a macroaneurysm along the arterial CRM that presented with decreased vision due to prominent lipid exudation at the macula. Treatment with intravitreal bevacizumab resulted in a favourable anatomical as well as functional outcome. To the best of our knowledge, this is the first report of this unusual presentation of CRM, and its successful management with intravitreal bevacizumab

Congenital simple hamartoma of the retinal pigment epithelium: a case report / Hamartoma congênito simples do epitéilo pigmentado da retina: relato de caso

We report the case of a 56-year-old woman who presented for a routine ophthalmological examination without visual symptoms and had a unilateral black retinal lesion that was detected by clinical examination. Fluorescein angiography and optical coherence tomography findings were compatible with a congenital simple hamartoma of the retinal pigment epithelium. It is very important to detect this tumor and differentiate it from other pigmented fundus lesions that can compromise visual function or result in systemic conditions such as those caused by malignant tumors.

Relato de um caso de paciente feminina de 56 anos que compareceu a uma consulta oftalmológica de rotina sem sintomas visuais e apresentando uma lesão retiniana preta, unilateral, detectada ao exame clínico. As características da angiografia fluoresceínica e da tomografia de coerência óptica foram compatíveis com hamartoma congênito simples do epitélio pigmentado da retina. É muito importante detectar este tumor e diferenciá-lo de outras lesões fundoscópicas pigmentadas que podem comprometer a função visual ou, além disso, afetar o paciente sistemicamente como em tumores malignos.

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.

Aicardi syndrome: The importance of an ophthalmologist in its diagnosis.

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Aicardi syndrome: a report of five Indian cases.

Five Indian cases of Aicardi syndrome, aged 1-13 years and all with the classic triad of infantile spasm, corpus callosal agenesis and chorioretinal lacunae, were presented. The purpose of this report was to demonstrate the clinical, electroencephalographic (EEG) and radiological spectrum and the treatment outcome of this disorder among the Indians. None of the patient had any family history of similar illness. All had profound psychomotor impairment with no meaningful speech development. There were microphthalmia in 2, optic disc coloboma in 1, interhemispheric cyst in 1, periventricular heterotopia in 2 and thoracolumbar kyphoscoliosis in 2 cases. They all had early onset epilepsy and there were multiple types of seizures. Two cases (40%) had the characteristic dissociated burst-suppression pattern in EEG. Two cases whose antiepileptic medications included vigabatrin had complete control of seizure.

Macrovaso retiniano congênito: relato de caso / Congenital retinal macrovessel: case report

O macrovaso retiniano congênito é rara anomalia vascular em que um vaso grande e suas tributárias cruzam a mácula. Descrevemos um caso de macrovaso retiniano em paciente com queixa de baixa acuidade visual.

Congenital retinal arterial loops and spontaneous vitreous haemorrhage: a case report.

This report describes a case of unilateral spontaneous vitreous haemorrhage associated with congenital retinal arterial loops.

Repercusiones socioeconómicas en el diagnóstico tardío del retinoblastoma / The influence of the social and economical status in the late retinoblastoma dignosis

Con el fin de determinar la repercusión del nivel socioeconómico en el diagnóstico tardío del retinoblastoma, se evaluaron 55 casos, tratados en el Hospital Infantil de México "Federico Gómez", durante cinco años (Enero de 1985 a Diciembre de 1989). De los 55 casos, el mínimo del edad de presentación fue de 30 meses, el 60 por ciento de procedencia foránea, con un estado avanzado de desnutrición en el 67 por ciento de los casos. Se clasificó un 40 por ciento en estadio IV de los cuales un 33 por ciento presentó daño en sistema nerviso central y un 38.6 por ciento daño en médula ósea. Los síntomas predominantes fueron Leucoria 92 por ciento, disminución de agudeza visual 74 por ciento, proptosis 64 por ciento. El 85 por ciento de los pacientes procedía del nivel socioeconómico bajo y ésta es la causa principal de diagnóstico tardío y abandono de tratamiento.

Vitreo-retinopatia familial exsudativa: relato de uma família / Familial exudative vitreoretinopathy: report of a family

Os aa. apresentam 6 casos de vítreo-retinopatia familial exsudativa enfatizando os principais aspectos clínicos, oftalmoscópicos, angiográficos e ecográficos que permitiram o diagnóstico desta rara patologia. Fazem uma revisäo do assunto e concluem ser esta patologia de diagnótico fácil se analisada em conjunto, porém, em casos isolados o diagnóstico diferencial deve ser feito com a fibroplasia retrocristaliana e Doença de Coats, devendo sempre ser lembrada frente a um caso de leucocoria na infância

Disgenesias papilares y de retina: incluyendo un caso de papila contráctil y uno de enfermedad de Norrie / Disc and retina disgenesia: including a contractil papilla and 1 of Norrie`s disease

Se presentan 21 ojos con anomalías congénitas de papila y retina, detallando un caso de disgenesia papilar total o síndrome de Morning Glory, de tipo contráctil que evolucionó hacia una PVR masiva, y un caso de displasia retinal o Enfermedad de Norrie típicamente bilateral. Se discute la embriogénesis de estas anomalías, concluyendo que la displasia retinal ocurre en la sexta semana de gestación y que la disgenesia papilar total probablemente se sitúe en la cuarta semana gestacional, produciéndose por falta de obliteración de la copa óptica