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Results 1 - 6 of 6 for "Cone-rod" dystrophy 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 
    ... 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
  4. 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
  5. Bardet-Biedl syndrome 
    ... Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde.2005.04.006. ... Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. 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