Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis
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Open Access
- 1 March 2001
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 119 (3) , 415-420
- https://doi.org/10.1001/archopht.119.3.415
Abstract
LEBER CONGENITAL amaurosis (LCA) is a term used to refer to a group of inherited retinal disorders characterized by severe, bilateral visual impairment in infancy. The pupillary responses are sluggish, nystagmus is frequently present, and the electroretinographic responses are markedly attenuated. The eyes of affected children appear grossly normal, with clear media, pink optic discs, and completely attached retinas. The fundus can initially appear normal, although many patients exhibit a degree of vascular attenuation when first examined. Pigmentary abnormalities, ranging from white dots to nummular dark pigment clumps and even bone spicule–like changes, can be seen in some patients. Coloboma-like lesions in the macula are a less common finding. High refractive errors are sometimes present, and older patients may develop keratoconus, presumably from the chronic trauma of the oculodigital reflex. Systemic disorders, most often neurological, are observed in a small number of individuals. The visual outcome can vary widely. Some children with LCA maintain measurable acuity for decades, while others are completely and permanently blind in infancy.1-3Keywords
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