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Article

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Ophthalmic genetics - 1 Dec 2025

Yates William B, Grigg John R, Nash Benjamin M, Ma Alan, Rajagopalan Sulekha, Hanna Bernadette, Jamieson Robyn V

Abstract excerpt

INTRODUCTION: PROM1 inherited retinal diseases (IRDs) result in significant phenotypic heterogeneity ranging from macular dystrophy to severe rod-cone dystrophy. This study examined a cohort of patients with autosomal recessive (AR) PROM1-associated IRD to determine important potential biomarkers of disease progression on multimodal imaging. METHODS: Ophthalmic phenotyping included clinical examination, OCT,...

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Identifiers

PMID: 40494823
DOI: 10.1080/13816810.2025.2510306

Genes

PROM1
AR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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