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Results 1 - 10 of 83 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. Mainzer-Saldino syndrome 
    ... in these affected individuals resembles a category of retinal disorders called rod-cone dystrophies. The most common rod- ... Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal ... for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 WITH OR ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  5. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
    ... Familial retinal arterial macroaneurysm National Organization for Rare Disorders (NORD) RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; RAMSVPS PubMed ...
    https://medlineplus.gov/...rysm-with-supravalvular-pulmonic-stenosis - Genetics
  6. SRD5A3-congenital disorder of glycosylation 
    ... 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/...d5a3-congenital-disorder-of-glycosylation - Genetics
  7. 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
  8. Achromatopsia 
    ... Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  9. 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
  10. Cone-rod dystrophy 
    ... Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, ... CF, Webster AR. Disease Expression in Autosomal Recessive Retinal Dystrophy ... for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
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