Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

doi:10.1016/j.ajhg.2026.01.015

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Article

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

American journal of human genetics - 5 Mar 2026

Lin Siying, Cancellieri Francesca, Cao Yexuan, Lotery Andrew J, Moye Abigail R, Vaclavik Veronika, Perren Fabienne, Poplawski Andrzej B, Schiff Elena R, Ullah Mukhtar, Iglesias-Romero Ana Belen, Kaminska Karolina, Jestin Aleksandr, Folcher Marc, Wallerich Sandrine, Ribeiro Mariana M, Hahaut Vincent, Picelli Simone, Mustafi Debarshi, Tworak Aleksander, Smidak Roman, Li Yumei, Lu Jiaxiong, Wang Meng, Mahroo Omar A, Borooah Shyamanga, Quinodoz Mathieu, Palczewski Krzysztof, Webster Andrew R, Rivolta Carlo, Chen Rui, Arno Gavin

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) characterized usually by progressive photoreceptor degeneration, leading to night blindness, peripheral visual field loss, and can progress to central vision impairment in some individuals. Despite advances in genomic diagnostics, many individuals with RP remain without a molecular diagnosis. We identified bi-allelic ultra-rare variants in...

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Identifiers

PMID: 41720099
DOI: 10.1016/j.ajhg.2026.01.015
PMCID: PMC13087403

Genes

FSD1L

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

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