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Results 1 - 10 of 20 for "Cone-rod" dystrophy 3
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 20 Genetic Testing Registry: Cone-rod dystrophy 3 Genetic Testing Registry: Cone-rod dystrophy 5 Genetic ... rod dystrophy 1 Genetic Testing Registry: X-linked cone-rod dystrophy 3 Cone rod dystrophy National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Vitelliform macular dystrophy 
    ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213. ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  3. Usher syndrome 
    ... of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.Researchers have identified three major types of Usher syndrome, designated as types ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  4. Retinitis pigmentosa 
    ... disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  5. Pantothenate kinase-associated neurodegeneration 
    ... psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis ... Mutations in the PANK2 ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
  6. Refsum disease 
    ... disease Genetic Testing Registry: Phytanic acid storage disease ... 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. Citation ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  7. Mitochondrial complex V deficiency 
    ... have cognitive impairment and an eye disorder called retinitis pigmentosa that ... in death within 2 to 3 years after the onset of symptoms. Both NARP ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  8. Ataxia with vitamin E deficiency 
    ... in Italian families. Neurol Sci. 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. 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/.../ataxia-with-vitamin-e-deficiency - Genetics
  9. Neuropathy, ataxia, and retinitis pigmentosa 
    Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - 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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