LCA5, a rare subset of Leber congenital amaurosis, is a retinal dystrophy characterized by loss in visual acuity, hyperopia and pendular nystagmus. Patients often display Franceschetti's oculo-digital sign, a behavior involving repeatedly pressing or rubbing the eyes with the fingers. Apart from the pigmentary retinopathy, fundus atrophy and colobomatous appearance associated with retinal dystrophy, patients also exhibit a markedly reduced response to electrophysiological stimulation. Unlike other types of LCA, this condition is not associated with multi-system abnormalities. Patients that have been studied thus far have shown normal neurologic, hepatic and renal function. The disorder has an early-infantile onset and is progressive in nature, resulting in complete vision loss over time.
LCA5 follows an autosomal recessive pattern of inheritance and is caused by homozygous mutations in the LCA5 gene.