Retinal Phenotype of an X-Linked Pseudo-usher Syndrome in Association with the G173R Mutation in the RPGR Gene
Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration, affecting approximately 1:3,500 individuals (Iannaccone, 2005). X-linked recessive RP (XLRP) accounts for about 10–20% of cases and, typically, causes one of the most severe forms of RP (Iannaccone, 2005). To date, two of the genes responsible for XLRP have been cloned, RP2 (Schwahn et al., 1998) and the retinitis pigmentosa GTPase regulator, RPGR (Meindl et al., 1996; Roepman et al., 1996). Mutations in the RPGR gene account for the majority of cases of XLRP (Breuer et al., 2002).
KeywordsHearing Loss Retinitis Pigmentosa Night Blindness G173R Mutation Usher Syndrome
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