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Results 1 - 10 of 30 for Retinal disorder
  1. PRPH2 gene 
    ... and eventually may result in blindness. Like other retinal disorders caused by PRPH2 gene mutations, retinitis pigmentosa involves ... in the PRPH2 gene cause a variety of retinal disorders, including a group of disorders called pattern dystrophies ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  2. NDP gene 
    ... loss. Persistent hyperplastic primary vitreous (PHPV) is another retinal disorder that may be caused by NDP gene variants. ... gene variants may influence the course of a retinal disorder that affects some premature infants. Retinopathy of prematurity ...
    https://medlineplus.gov/genetics/gene/ndp - Genetics
  3. RPGR gene 
    ... exon have been found in people with other retinal disorders. These include cone-rod dystrophy (described above), cone dystrophy, and atrophic macular degeneration. These retinal disorders are characterized by progressive vision abnormalities, although their ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. SRD5A3 gene 
    ... Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project. Association of Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 Apr 1;135(4): ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  5. RPE65 gene 
    ... MI. RPE65: role in the visual cycle, human retinal disease, and gene therapy. Ophthalmic Genet. 2009 Jun;30( ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. ABCA4 gene 
    ... ABCA4: structural and functional properties and role in retinal disease. Adv Exp Med Biol. 2010;703:105-25. ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  7. PDE6H gene 
    ... Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  8. BEST1 gene 
    ... abnormalities may be related to defects in the retinal pigment epithelium.A recently described eye disorder called autosomal recessive bestrophinopathy (ARB) is also caused ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  9. NPHP1 gene 
    ... combination of nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically involves neurological problems and can include ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  10. TREX1 gene 
    ... have also been found in people with a disorder called autosomal dominant retinal vasculopathy with cerebral leukodystrophy, which affects the brain and the blood vessels in the specialized light-sensitive tissue that lines ... This is a rare blood disorder where the blood plasma in certain parts of ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
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