Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

doi:10.1167/iovs.12-11025

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Article

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Investigative ophthalmology & visual science - 13 Dec 2012

Branham Kari, Othman Mohammad, Brumm Matthew, Karoukis Athanasios J, Atmaca-Sonmez Pelin, Yashar Beverly M, Schwartz Sharon B, Stover Niamh B, Trzupek Karmen, Wheaton Dianna, Jennings Barbara, Ciccarelli Maria Laura, Jayasundera K Thiran, Lewis Richard A, Birch David, Bennett Jean, Sieving Paul A, Andreasson Sten, Duncan Jacque L, Fishman Gerald A, Iannaccone Alessandro, Weleber Richard G, Jacobson Samuel G, Heckenlively John R, Swaroop Anand

Abstract excerpt

PURPOSE: To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHODS: Simplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood...

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PMID: 23150612
DOI: 10.1167/iovs.12-11025
PMCID: PMC3522443

Genes

RPGR

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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.PMID 23150612Read ↗

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