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Results 1 - 10 of 19 for "Cone-rod" dystrophy 17
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 Genetic Testing Registry: Cone-rod dystrophy 18 Genetic ... DYSTROPHY 21; CORD21 CONE-ROD DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE-ROD DYSTROPHY 12; CORD12 PubMed Boulanger- ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  3. 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
  4. 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
  5. 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
  6. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  7. Bardet-Biedl syndrome 
    ... Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  8. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  9. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  10. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
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