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Article

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration.

HGG advances - 9 Apr 2026

Hussain Hafiz Muhammad Jafar, Wang Meng, Yang Paul, Tasharrofi Behnoosh, Li Yumei, Clark Rebecca Lynn, Fale-Olsen Emma, Waldow Grace, Keramatipour Mohammad, Asadollahi Mostafa, Pennesi Mark E, Chen Rui

Abstract excerpt

Inherited retinal diseases (IRDs) comprise a diverse group of disorders that frequently lead to progressive vision impairment and blindness. Despite advances in genetic testing, a significant number of IRD cases remain genetically unsolved, often due to unidentified disease-associated genes or variants. This study reports additional cases for the newly discovered IRD genes of the AP-5 complex. A comprehensive...

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Source

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Identifiers

PMID: 41830174
DOI: 10.1016/j.xhgg.2026.100584
PMCID: PMC13050037

Genes

AP5B1
AP5Z1
ERG
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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