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Results 1 - 7 of 7 for Retinitis pigmentosa 23
  1. 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
  2. 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
  3. Usher syndrome 
    Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  4. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  5. TRNT1 deficiency 
    ... Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the ... developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  6. PMM2-congenital disorder of glycosylation 
    ... Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  7. 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