Biallelic <i>BAIAP3</i> Variants Are Associated with Isolated Retinitis Pigmentosa.

ABSTRACT: A class of retinal dystrophies known as retinitis pigmentosa (RP) is caused by the loss of photoreceptor cells. RP can be genetically transmitted as an autosomal dominant, autosomal recessive, or X-linked trait. About one-third of genes implicated in retinal degeneration encode for proteins whose functional dysregulation affects the "connecting cilium" in photoreceptors, altering its structure and function. Here we report on a 33-year-old woman who was referred for clinical genetic testing following a previous diagnosis of degenerative retinopathy, which was not informative. She was enrolled in a research program dedicated to undiagnosed retinal disorders, where a whole genome sequencing approach was employed to understand the underlying genetic basis. The genomic analysis documente

SUBMITTER: Cordeddu V 

PROVIDER: S-EPMC12428663 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature