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Results 1 - 10 of 14 for "Cone-rod" dystrophy 22
  1. PRPH2 gene 
    ... Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):133-54. doi: 10.1076/opge.22.3.133.2224. Citation on PubMed Wells J, Wroblewski J, Keen J, ... cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3( ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  2. TRNT1 deficiency 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  3. TRNT1 gene 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  4. BEST1 gene 
    ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  5. Neuropathy, ataxia, and retinitis pigmentosa 
    ... Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  6. Cone-rod dystrophy 
    Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  7. 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
  8. Bardet-Biedl syndrome 
    ... syndrome: beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  9. 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
  10. 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
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