Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290
Open Access
- 1 February 2013
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Ophthalmology
- Vol. 131 (2) , 178-182
Abstract
Leber congenital amaurosis (LCA; OMIM 204000) is a group of hereditary infantile and childhood retinal dystrophies characterized by severe loss of visual function early in life.1 Leber congenital amaurosis is usually inherited as an autosomal recessive trait, although rare cases of dominant inheritance have been reported.2,3 Electroretinogram results can confirm the diagnosis, showing severely reduced or absent scotopic and photopic responses in these patients.Keywords
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