Article
Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Clinical & experimental ophthalmology - 1 Jan 2000
Kuruvilla Shilpa E, Song Eileen, Raoof Naz, van Bysterveldt Katherine, Oliver Verity F, Hong Sheng Chiong, Al-Taie Rasha, Wilson Graham, Vincent Andrea L
Abstract excerpt
BACKGROUND: With the promise of gene replacement therapy, eligible males and females with X-linked inherited retinal dystrophy (XL-IRD) should be identified. METHODS: Retrospective observational cohort study to establish the phenotypic and genotypic spectrum of XL-IRD within New Zealand (NZ). Thirty-two probands, including 9 females, with molecularly proven XL-IRD due to RP2 or RPGR mutations, and 72 family...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.