Leber Congenital Amaurosis 15 (LCA15)

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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 (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613843) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 15, also known as lca15, is related to cone-rod dystrophy 18 and severe early-childhood-onset retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 15 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways are Ciliary landscape and Bardet-Biedl syndrome. Affiliated tissues include retina and eye, and related phenotypes are hypermetropia and retinopathy

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A Leber congenital amaurosis that has material basis in mutation in the TULP1 gene on chromosome 6p21.3.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 15