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Results 1 - 10 of 10 for Retinitis pigmentosa 30
  1. Retinitis pigmentosa 
    ... are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least 35 genes have been associated with the autosomal recessive form of the disorder. The ... recessive retinitis pigmentosa. Changes in at least six genes are thought ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. 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 ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  3. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes ... disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  4. 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
  5. 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
  6. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  7. 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
  8. Vitelliform macular dystrophy 
    ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3( ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - 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
  10. PMM2-congenital disorder of glycosylation 
    ... Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics