Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

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. CACNA1F gene 
    ... Åland Island eye disease, X-linked cone-rod dystrophy, an X-linked retinal disorder in New Zealand, and retinal and optic ... to the brain). The CACNA1F mutation responsible for retinal and optic disc atrophy alters the structure of the ... SUBUNIT; CACNA1F CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 ALAND ISLAND EYE DISEASE; ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  10. 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
previous · 1 · 2 · next