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Doc Ophthalmol. 1988 Mar-Apr;68(3-4):257-71.

Retinal dystrophy and macular coloboma.

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  • 1Jules Stein Eye Institute, UCLA School of Medicine 90024.


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.

[PubMed - indexed for MEDLINE]
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