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Results 1 - 10 of 15 for Retinal dystrophy
  1. Fundus albipunctatus 
    ... show signs and symptoms of the condition. Albipunctate retinal dystrophy Lauber's disease Pigmentary retinal dystrophy Genetic Testing Registry: Pigmentary retinal dystrophy National Organization ...
    https://medlineplus.gov/genetics/condition/fundus-albipunctatus - Genetics
  2. Cone-rod dystrophy 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  3. Cohen syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  4. SRD5A3-congenital disorder of glycosylation 
    ... 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- ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  5. Mainzer-Saldino syndrome 
    ... Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  6. Microphthalmia 
    ... VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. 2010 Jul;128(1):51-60. ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  7. Asphyxiating thoracic dystrophy 
    ... pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Asphyxiating thoracic ... mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5): ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  8. Stargardt macular degeneration 
    ... STGD Genetic Testing Registry: Severe early-childhood-onset retinal dystrophy Genetic Testing Registry: Stargardt Disease 3 Stargardt disease ...
    https://medlineplus.gov/.../condition/stargardt-macular-degeneration - Genetics
  9. Retinitis pigmentosa 
    ... RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  10. Maternally inherited diabetes and deafness 
    ... with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
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