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.
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Heckenlively, J.R., Foxman, S.G. & Parelhoff, E.S. Retinal dystrophy and macular coloboma. Doc Ophthalmol 68, 257–271 (1988). https://doi.org/10.1007/BF00156432
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DOI: https://doi.org/10.1007/BF00156432