Is RPGR-related retinal dystrophy associated with systemic disease? A case series.

Ruofan Connie Han Laura J WoodCristina Martinez-Fernandez de la CamaraRobert H HendersonDorothy A ThompsonJasmina Cehajic-KapetanovicRobert E MacLaren

Published in: Ophthalmic genetics (2023)

The link between RPGR variants and a systemic ciliopathy remains plausible, but currently unproven.

Keyphrases

optical coherence tomography
diabetic retinopathy
copy number
early onset
drug induced
gene expression
optic nerve
dna methylation