X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPas
Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
β Scribed by Al-Maskari, A; O'grady, A; Pal, B; McKibbin, M
- Book ID
- 109852122
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 101 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0950-222X
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RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete blindness in the third or fourth decade of life. Despite the RP3 locus on Xp21.1 accounting for 60-90% of XLRP, only 10-20% of identified RPGR mutat
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## Abstract Most Xβlinked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In Xβlinked retinitis pigmentosa (XLRP), however, both recessive and semiβdominant inheritance patterns have been reported. We identified an Israeli family with semiβdominant XLRP due