RPGR
Disease Category: x-linked
Patient Population: click here
Known Clinical Trials: 7 Recruiting
Treatment Options: clinical trials underway
Strategies to Preserve Eye Health: Protection from UV exposure; vitamin supplements, in some cases
Institution(s) Conducting Research: Children's Hospital L.A., Vitreo Retinal Associates, Emory Eye Center, Univ of Florida, Boston Children's Hospital, Columbia Univ, Shiley Eye Institute, Mass Eye & Ear, Tokyo Med Center, Duke Eye Center, Casey Eye Center, Retina Foundation Southwest, Univ of Colorado, Kellogg Eye Center
A FACE OF RP
Steve
United Kingdom
BRIEF DESCRIPTION
RPGR retinitis pigmentosa (RPGR-RP) is a severe, inherited retinal disease that causes progressive vision loss and blindness. It's caused by mutations in the RPGR gene, which is located on the X-chromosome. RPGR-RP is the most common cause of X-linked retinitis pigmentosa (XLRP), accounting for about 70% of cases. It is characterized by severe disease, phenotypic variability, and degeneration. The disease progresses with the loss of rod photoreceptors, pigmentary retinopathy, and perivascular changes. X-linked retinitis pigmentosa and affects men and women differently.
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