Abstract
Abstract: :
Purpose: Microcephaly with chorioretinopathy (MIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe here the occurrence of microcephaly with chorioretinopathy in a brother–sister pair. Methods: Two siblings presented with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Their complete medical and ophthalmologic records were reviewed. Dilated fundus examination and photography was performed. Results: Patient1 has multiple atrophic and dysplastic–appearing lesions of the retina and choroid in each eye. An ERG performed at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both are mentally retarded and severely microcephalic. Conclusions: Chorioretinopathy and retinal folds have been described independently in association with the condition "microcephaly with chorioretinopathy," and have even been described within the same individual. However, this is the first case of these two clinical features being observed in 2 siblings where the parents are normal. These findings support an expansion of the ocular phenotype and suggest the existence of gonadal mosaicism.
Keywords: genetics • retinal degenerations: hereditary • electroretinography: clinical