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Results 1 - 9 of 9 for Retinitis pigmentosa 18
  1. Retinitis pigmentosa 
    ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140- ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. Refsum disease 
    ... disease Genetic Testing Registry: Phytanic acid storage disease ... variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  3. Usher syndrome 
    ... Usher syndrome. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: ... pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  4. TRNT1 deficiency 
    ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  5. 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
  6. Ataxia with vitamin E deficiency 
    ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  7. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  8. Cone-rod dystrophy 
    ... of rod-cone dystrophy is a condition called retinitis pigmentosa. ABCA4 CACNA1F CNGA3 CNGB3 CRB1 CRX GUCY2D PDE6C ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  9. Nearsightedness 
    ... congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics