Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for "Cone-rod" dystrophy 18
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 17 Genetic Testing Registry: Cone-rod dystrophy 18 Genetic Testing Registry: Cone-rod dystrophy 19 Genetic ... DYSTROPHY 11; CORD11 CONE-ROD DYSTROPHY 10; CORD10 CONE-ROD DYSTROPHY 18; CORD18 CONE-ROD DYSTROPHY 20; CORD20 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ... j.jns.2010.02.028. Epub 2010 Apr 18. Citation on PubMed Knappskog PM, Majewski J, Livneh ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics