Leber Congenital Amaurosis 3

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OMIM 57 604232 Disease Ontology 12 DOID:0110331 ICD10 33 H35.5 MedGen 42 C1858677 C2751780

MeSH 44 D057130 SNOMED-CT via HPO 69 258211005 7973008 563001 65194006 1151008 267628004 more UMLS 73 C1858677 C2931386

OMIM : ⁵⁷ Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (604232)

MalaCards based summary : Leber Congenital Amaurosis 3, also known as lca3, is related to severe early-childhood-onset retinal dystrophy and hereditary retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7). Affiliated tissues include retina and eye, and related phenotypes are visual loss and nystagmus

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 3: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Clinical features from OMIM:

604232

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.