Leber Congenital Amaurosis 19 (LCA19)

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OMIM® 57 618513 OMIM Phenotypic Series 57 PS204000 MeSH 44 D057130

MedGen 41 C5193139 CN261157 SNOMED-CT via HPO 68 246635007 258211005 302200001 397540003 563001 7973008 95695004 more

UniProtKB/Swiss-Prot : ⁷³ Leber congenital amaurosis 19: A form of Leber congenital amaurosis, 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. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones.

MalaCards based summary : Leber Congenital Amaurosis 19, is also known as lca19. An important gene associated with Leber Congenital Amaurosis 19 is USP45 (Ubiquitin Specific Peptidase 45). Affiliated tissues include retina, and related phenotypes are nystagmus and optic disc pallor

OMIM® : ⁵⁷ Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (618513) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618513 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 19

Search GEO for disease gene expression data for Leber Congenital Amaurosis 19.