Leber congenital amaurosis type 1

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Leber congenital amaurosis type 1

A clinically and genetically heterogeneous, usually autosomal recessive, group of retinopathies of early onset (OMIM:204000) characterised by vision loss, nystagmus and severe retinal dysfunction; affected infants have little or no retinal photoreceptor function by electroretinography. Leber congenital amaurosis is the most common genetic cause of congenital visual impairment in infants and children.

Molecular pathology
Defects in GUCY2D, which encodes a retina-specific guanylate cyclase, cause Leber congenital amaurosis type 1.