RESUMO Embora o coloboma da cabeca do nervo optico e/ou tecido coriorretiniano nao sejam frequentes, a duplicacao ou pseudoduplicacao disco e rara. Relatamos aqui um caso raro de pseudotriplicacao em homem assintomatico 50 anos. A ressonância magnetica orbital confirmou presenca apenas optico. Pseudotriplicacao optico: relato

A case of congenital isolated coloboma of both the upper lids from just lateral to the lacrimal punctum up to the medial half, with symblepharon in the region of lower eyelid, was studied in a 7-year-old female child. She did not have any other associated anomalies. The birth and family histories were normal. The puncta were normal in position and well apposed to the globe. The closure of the l...

CASE REPORT A 24-year-old male presented with visual acuity loss of the right eye. Examination of the right eye fundus showed a serous detachment of the posterior pole associated with optic disc coloboma. The patient refused surgical treatment. After six months an improvement in visual acuity was observed with the disappearance of macular subretinal fluid. DISCUSSION The macular detachment is...

Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination. A 7.8-kb intronic deletion in the gene encoding non-homologous end-joining factor 1 (NHEJ1) has been reported to be the ca...