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Article

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Acta ophthalmologica - 1 Sept 2022

Iosifidis Christos, Liu Jingshu, Gale Theodora, Ellingford Jamie M, Campbell Christopher, Ingram Stuart, Chandler Kate, Parry Neil R A, Black Graeme C, Sergouniotis Panagiotis I

Abstract excerpt

PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein-coding region of the TRPM1 gene are one of the commonest causes of CSNB. Here, we report the clinical and genetic findings in 10 unrelated individuals with TRPM1-retinopathy. METHODS: Study subjects were recruited through a tertiary...

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Identifiers

PMID: 35633130
DOI: 10.1111/aos.15186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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