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Results 1 - 10 of 13 for Retinitis pigmentosa 15
  1. ... parts of the body. COD1 CORDX1 CRD PCDX retinitis pigmentosa 15 retinitis pigmentosa 3 GTPase regulator RP15 RP3 RPGR_HUMAN X- ... Bamiou DE, Hardcastle AJ. RPGR mutation associated with retinitis pigmentosa, ... J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609. No ...
  2. ... common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not associated with ... pigmentosa change single protein building blocks (amino acids) in ...
  3. ... loss. RP2 gene mutations account for 10 to 15 percent of all cases of X-linked retinitis pigmentosa.Most mutations in the RP2 gene lead to ... in the human retina of the X-linked retinitis pigmentosa protein RP2, its ... protein Arl3. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/ ...
  4. ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
  5. ... in the PRPH2 gene can cause autosomal dominant retinitis pigmentosa, an eye disease that first disrupts night vision ... other retinal disorders caused by PRPH2 gene mutations, retinitis pigmentosa involves a slow degeneration of photoreceptor cells, leading ...
  6. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition BEST1 gene mutations ... individuals with eye abnormalities similar to those in retinitis pigmentosa, although some doctors think these individuals have a ...
  7. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition CRUM1_HUMAN crumbs ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; ...
  8. ... were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ... However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher ...
  9. ... with the development of an eye disorder called retinitis pigmentosa that causes vision loss in people with ataxia ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
  10. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition USH3 USH3A USH3A_ ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: ...
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