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Results 1 - 10 of 12 for Retinitis pigmentosa 20
  1. 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
  2. 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
  3. 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
  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. 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
  6. 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
  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. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - 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. Saul-Wilson syndrome 
    ... the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
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