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Results 1 - 10 of 12 for "X-linked" "cone-rod" dystrophy 2
  1. RPGR gene 
    ... for about 70 percent of all cases of X-linked retinitis pigmentosa.Most of the mutations responsible for X-linked retinitis pigmentosa occur in the ORF15 exon of the RPGR ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. RP2 gene 
    ... 10 to 15 percent of all cases of X-linked retinitis pigmentosa.Most mutations in the RP2 gene lead to ... in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6): ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  3. Cone-rod dystrophy 
    ... CONE-ROD DYSTROPHY 5; CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 CONE-ROD DYSTROPHY 7; CORD7 CONE-ROD DYSTROPHY 3; CORD3 CONE ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  4. Retinitis pigmentosa 
    ... and RP2 genes account for most cases of X-linked retinitis pigmentosa.The genes associated with retinitis pigmentosa play essential ... an X-linked pattern. The genes associated with X-linked retinitis pigmentosa are located on the X chromosome, which is ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  5. Nearsightedness 
    ... conditions include autosomal recessive congenital stationary night blindness, X-linked 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
  6. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  8. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  9. Retinal Disorders (National Library of Medicine)  
    The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. ...
    https://medlineplus.gov/retinaldisorders.html - Health Topics
  10. CACNA1F gene 
    ... CACNA1F gene have been identified in people with X-linked congenital stationary night blindness. CACNA1F gene variants are ... visual signals, which impairs vision in people with X-linked congenital stationary night blindness. More About This Health ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
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