A pedigree of Leber's congenital amaurosis

Abstract

A pedigree of Leber's congenital amaurosis compatible with autosomal recessive trait is reported. Two male infants from consanguineous parents had remarkable visual loss within the first year of life, with sluggish pupillary responses, poor fixations, minimal eyeground changes and absent electroretinograms on presentations at the ages of four or 14 months. Follow-up studies revealed definite progressions of eyeground abnormalities consisting of attenuated retinal arterioles, pepper- and salt-like appearance with numerous yellowish-white punctate lesions in the midperiphery, and pale optic nerves. Fluorescein angiographic study performed on one case showed multiple hyperfluorescent spots over the posterior and midperipheral eyegrounds suggesting alterations of the retinal pigment epithelium. These functional and morphological abnormalities of the retina were similar in the two siblings. Cycloplegic refractions revealed slight myopic or mixed astigmatism, but no marked hyperopia. The patients had normal physical and mental developments with no obvious systemic complications.