Retinal disorders

Gene: FSD1L

Green List (high evidence)

Lin, Cancellieri, Cao et al (PMID 41720099) describe 6 affected individuals from 4 families with retinitis pigmentosa. 2 affected siblings had both retinitis pigmentosa and a mild neurodevelopmental phenotype; the remaining four individuals had apparent isolated retinal dystrophy, including one individual who underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement. This suggests that FSD1L-associated disease may therefore span a broad phenotypic spectrum, ranging from severe neurodevelopmental syndromes to, at its mildest, non-syndromic retinal dystrophy.
Sources: Literature

Created: 23 Feb 2026, 7:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa; retinal dystrophy

Publications

• 41720099

Mode of pathogenicity
Other