Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.
Jorge PincayMarilyn RodriguezDivya KaushalStephen H TsangPublished in: Documenta ophthalmologica. Advances in ophthalmology (2024)
This rod-sparing result was consistent with cone-dystrophy and is the first known case of a rod-sparing ffERG phenotype in a BBS patient with mutations in the ARL6 gene. This contributes to the existing phenotype and may potentially contribute to furthering our understanding of BBS pathophysiology.