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Results 1 - 10 of 36 for "Cone-rod" dystrophy 15
  1. RPGR gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 13 Genetic Testing Registry: Cone-rod dystrophy 15 Genetic Testing Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  3. USH2A gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  4. RP2 gene 
    ... 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/ ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  5. Mainzer-Saldino syndrome 
    ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  6. Retinitis pigmentosa 
    ... in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  7. Ataxia with vitamin E deficiency 
    ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  8. Vitelliform macular dystrophy 
    ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or ... and other maculopathies. Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098- ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  9. Usher Syndrome From the National Institutes of Health (National Institute on Deafness and Other Communication Disorders)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Usher syndrome is the most common condition that affects both hearing and vision; sometimes it also affects balance. ...
    https://www.nidcd.nih.gov/health/usher-syndrome - External Health Links
  10. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    What is Retinitis Pigmentosa? Learn about the signs and symptoms of the retinal condition retinitis pigmentosa, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
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