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Results 1 - 10 of 12 for "Cone-rod" dystrophy 20
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 2 Genetic Testing Registry: Cone-rod dystrophy 20 Genetic Testing Registry: Cone-rod dystrophy 3 Genetic ... DYSTROPHY 10; CORD10 CONE-ROD DYSTROPHY 18; CORD18 CONE-ROD DYSTROPHY 20; CORD20 CONE-ROD DYSTROPHY 9; CORD9 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Retinitis pigmentosa 
    ... than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal ... are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  3. Mainzer-Saldino syndrome 
    ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. 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
  5. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  6. Bardet-Biedl syndrome 
    ... result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  7. 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
  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. Mevalonate kinase deficiency 
    ... the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the ... the condition. People who have approximately 1 to 20 percent of normal mevalonate kinase activity typically develop ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - 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 ... PMM2-CDG. 2005 Aug 15 [updated 2021 May 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
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