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Results 1 - 10 of 12 for Retinitis pigmentosa 17
  1. PRPH2 gene 
    ... Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004( ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  2. RPE65 gene 
    ... the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas. ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  3. Usher syndrome 
    ... have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance. Usher syndrome affects around 4 to 17 in 100,000 people. Types I and II ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  4. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  5. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  6. CLRN1 gene 
    ... 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: ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  7. Cone-rod dystrophy 
    ... of rod-cone dystrophy is a condition called retinitis pigmentosa. ABCA4 CACNA1F CNGA3 CNGB3 CRB1 CRX GUCY2D PDE6C ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  8. Saul-Wilson syndrome 
    ... the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  9. Mitochondrial DNA 
    ... been found in people with neuropathy, ataxia, and retinitis pigmentosa (NARP). The MT-ATP6 gene provides instructions for ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  10. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
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