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Results 1 - 10 of 20 for Retinitis pigmentosa 6
  1. Retinitis pigmentosa 
    ... 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked ... Central Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. Mainzer-Saldino syndrome 
    ... Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - 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(01) ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  4. Neuropathy, ataxia, and retinitis pigmentosa 
    ... gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  5. Senior-Løken syndrome 
    ... 62. doi: 10.1016/s0272-6386(98)70083-6. Citation on PubMed Otto ... pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  6. 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
  7. 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
  8. Refsum disease 
    ... disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  9. 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
  10. 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
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