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Results 1 - 9 of 9 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. CDH23 gene 
    ... to have DFNB12 have developed the vision disorder retinitis pigmentosa later in life, which is characteristic of Usher ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics