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Results 1 - 10 of 13 for Retinal dystrophy
  1. CRB1 gene 
    ... R, Cremers FP. CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat. 2004 Nov;24(5):355-69. ... J, Cremers FP. Towards understanding CRUMBS function in retinal dystrophies. Hum Mol Genet. 2006 Oct 15;15 Spec ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  2. PRPH2 gene 
    ... FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. ... Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  3. RPGR gene 
    ... RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. NPHP1 gene 
    ... W. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012 Dec 15; ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  5. MKKS gene 
    ... WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  6. GDF6 gene 
    ... factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7): ...
    https://medlineplus.gov/genetics/gene/gdf6 - Genetics
  7. SRD5A3 gene 
    ... 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 Apr 1;135(4):339- ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  8. OPN1SW gene 
    ... Williams DR, Foster DH, Neitz M. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  9. GUCY2D gene 
    ... DM. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  10. BEST1 gene 
    ... calcium atoms (calcium ions) into cells of the retinal pigment epithelium. Other potential functions of bestrophin-1 are under study. More than 100 mutations in the BEST1 gene have been identified in people with vitelliform macular dystrophy. These mutations can cause either the early-onset ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
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