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Article

Mutations in AGBL5 associated with Retinitis pigmentosa.

Ophthalmic genetics - 1 Jun 2024

Paredes Diego I, Bello Nicholas R, Capasso Jenina E, Procopio Rebecca, Levin Alex V

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constriction. RP is characterized by wide genetic heterogeneity with a broad range of potential genes involved in the genesis of this disease. Very few cases have been reported of RP due to pathogenic variants in...

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Source

Identifiers

PMID: 38078364
DOI: 10.1080/13816810.2023.2291687

Genes

AGBL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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