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Results 1 - 10 of 10 for Retinitis pigmentosa 25
  1. TRNT1 deficiency 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  2. Usher syndrome 
    ... El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2. ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  3. Ataxia with vitamin E deficiency 
    ... gene 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
  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. 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
  6. 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
  7. Mevalonate kinase deficiency 
    ... the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  8. Pantothenate kinase-associated neurodegeneration 
    ... psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome, which was historically described ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
  9. Cone-rod dystrophy 
    ... of rod-cone dystrophy is a condition called retinitis pigmentosa. ABCA4 CACNA1F CNGA3 CNGB3 CRB1 CRX GUCY2D PDE6C ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  10. CLN11 disease 
    ... time and is due to a condition called retinitis pigmentosa, which is caused by the breakdown of the ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics