Retinal dystrophy and macular coloboma
- 1 January 1988
- journal article
- research article
- Published by Springer Nature in Documenta Ophthalmologica
- Vol. 68 (3-4) , 257-271
- https://doi.org/10.1007/bf00156432
Abstract
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.This publication has 17 references indexed in Scilit:
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