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Results 1 - 10 of 16 for Retinitis pigmentosa 9
  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 article on PubMed Central ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - 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. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  3. Neuropathy, ataxia, and retinitis pigmentosa 
    ... Rare Disorders (NORD) ClinicalTrials.gov NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  4. Mainzer-Saldino syndrome 
    ... for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 PubMed Beals RK, Weleber RG. Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  5. 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
  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
  7. 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
  8. 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
  9. 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
  10. 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
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