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Retinitis pigmentosa 17
- ... 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( ...
- ... 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. ...
- ... 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 ...
- 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 ...
- ... 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 ...
- ... 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: ...
- Usher Syndrome (National Institute on Deafness and Other Communication Disorders)Usher Syndrome/Learn More ... Usher Syndrome ... National Institute on Deafness and Other Communication Disorders ... From the National Institutes of Health ... Usher syndrome ...
- ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ...
- ... congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch ...
- ... of rod-cone dystrophy is a condition called retinitis pigmentosa. ABCA4 CACNA1F CNGA3 CNGB3 CRB1 CRX GUCY2D PDE6C ...