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Results 1 - 10 of 15 for "Cone-rod" dystrophy 14
  1. RPGR gene 
    ... RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_ ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. TTPA gene 
    ... vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. doi: 10.1021/bi0363073. Citation on PubMed Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  3. 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
  4. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  5. 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
  6. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... 8q21. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  7. Bardet-Biedl syndrome 
    ... syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes ... Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  8. RHO gene 
    ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  9. 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
  10. RPE65 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition all-trans-retinyl- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
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