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Results 1 - 10 of 50 for Retinal dystrophy
  1. ... show signs and symptoms of the condition. Albipunctate retinal dystrophy Lauber's disease Pigmentary retinal dystrophy Genetic Testing Registry: Pigmentary retinal dystrophy Disease InfoSearch ...
  2. ... to their sons. Cone-rod degeneration Cone-rod retinal dystrophy CORD CRD Retinal cone-rod dystrophy Tapetoretinal degeneration ... CF, Webster AR. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest ...
  3. ... 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 ...
  4. ... sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), ... with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and that abnormal fat storage may cause truncal ...
  5. ... vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of ... 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 Apr 1;135(4):339- ...
  6. ... Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia ...
  7. Autosomal Recessive Inheritance From the National Institutes of Health (National Eye Institute)  
    ... is the most common type of inheritance for retinal dystrophies. Learn about how autosomal recessive inheritance works, including ...
  8. ... 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. ...
  9. ... VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. 2010 Jul;128(1):51-60. ...
  10. ... RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. ...
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