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Article

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

The British journal of ophthalmology - 1 Nov 2015

Bourgault Serge, Baril Catherine, Vincent Ajoy, Héon Elise, Ali Asim, MacDonald Ian, Lueder Gregg T, Colleaux Kevin M, Laliberté Isabelle

Abstract excerpt

BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene. AIM: To report the ocular features and characterise the retinal phenotype in molecularly confirmed APS1. METHOD: This retrospective case series reviewed five molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months-44 years; mean follow-up of 8...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25926518
DOI: 10.1136/bjophthalmol-2014-305897

Genes

ERG
AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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