Leber Congenital Amaurosis 14 (LCA14)

Leber Congenital Amaurosis 14(来自ICD-11)

别称:

Lca14

Retinitis Pigmentosa, Juvenile, Lrat-Related

Retinal Dystrophy, Early-Onset Severe, Lrat-Related

Severe Early-Onset Retinal Dystrophy Lrat-Related

Retinitis Pigmentosa Juvenile Lrat-Related

Retinal Dystrophy, Early-Onset Severe

Leber Congenital Amaurosis, Type 14

Retinitis Pigmentosa, Juvenile

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leber Congenital Amaurosis 14, also known as lca14, is related to severe early-childhood-onset retinal dystrophy and leber congenital amaurosis 4, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and photophobia

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