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Results 1 - 10 of 18 for "Cone-rod" dystrophy 23
  1. 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 ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  2. RP2 gene 
    ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. Citation on ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  3. Retinitis pigmentosa 
    ... known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23. No abstract available. Citation on PubMed or Free ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. CDH23 gene 
    ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which ... CAD23_HUMAN cadherin-23 cadherin-like 23 cadherin-related 23 CDHR23 DFNB12 ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  5. GUCY2D gene 
    ... Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: 10.1167/iovs.08-1901. Epub ... patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  6. Refsum disease 
    ... disease Genetic Testing Registry: Phytanic acid storage disease ... basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315. ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  7. 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
  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. 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
  10. 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
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