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Results 1 - 10 of 15 for "Cone-rod" dystrophy 21
  1. Cone-rod dystrophy 
    ... DYSTROPHY 20; CORD20 CONE-ROD DYSTROPHY 9; CORD9 CONE-ROD DYSTROPHY 21; CORD21 CONE-ROD DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE- ...
    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. CRB1 gene 
    ... in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Citation on PubMed Gosens ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  4. Mainzer-Saldino syndrome 
    ... Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  5. 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
  6. GUCY2D gene 
    ... leads to the progressive vision problems characteristic of cone-rod dystrophy. More ... in this gene account for 6 to 21 percent of all cases of this condition.The ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  7. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... These include Åland Island eye disease, X-linked cone-rod dystrophy, an X-linked retinal disorder in New Zealand, ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  8. Usher syndrome 
    ... vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive ... of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.Researchers ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  9. Bardet-Biedl syndrome 
    ... 33. doi: 10.1038/nature02030. Epub 2003 Sep 21. Citation on PubMed Baker K, Beales PL. Making ... syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538):2256-9. doi: 10.1126/science. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  10. USH2A gene 
    ... the USH2A gene have been reported to cause retinitis pigmentosa, a vision disorder that causes the light-sensing ... common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
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