Leber Congenital Amaurosis 3 (LCA3)

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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 retinitis pigmentosa (Gu et al., 1997). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences (Wang et al., 2009; Avila-Fernandez et al., 2011; Feldhaus et al., 2018; Sengillo et al., 2018). 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) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 3, also known as lca3, is related to cone-rod dystrophy 17 and chorioretinal scar. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and nyctalopia

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 SPATA7 gene on chromosome 14q31.

Clinical features from OMIM®:

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