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Results 1 - 9 of 9 for Retinitis pigmentosa 45
  1. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  2. TTPA gene 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155( ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  3. Ataxia with vitamin E deficiency 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155( ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  4. RHO gene 
    ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  5. PRPH2 gene 
    ... in the PRPH2 gene can cause autosomal dominant retinitis pigmentosa, an eye disease that first disrupts night vision ... other retinal disorders caused by PRPH2 gene mutations, retinitis pigmentosa involves a slow degeneration of photoreceptor cells, leading ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  6. BEST1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition BEST1 gene mutations ... individuals with eye abnormalities similar to those in retinitis pigmentosa, although some doctors think these individuals have a ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  7. Abetalipoproteinemia 
    ... condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ... cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics
  8. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - 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