Fundus Albipunctatus (FALBI)

Alias:

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

Rpa

Albipunctate Retinal Dystrophy

Lauber's Disease

Falbi

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fundus Albipunctatus, also known as retinitis punctata albescens, is related to bothnia retinal dystrophy and newfoundland rod-cone dystrophy. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Olfactory Signaling Pathway and ESR-mediated signaling. Affiliated tissues include retina and eye, and related phenotypes are progressive visual loss and nyctalopia

Related ID：

MALACARDS：FND001

OMIM：136880

MESH：C562733