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Results 1 - 10 of 53 for Retinal disorder
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Fundus albipunctatus 
    ... disease Pigmentary retinal dystrophy Genetic Testing Registry: Pigmentary retinal dystrophy National Organization for Rare Disorders (NORD) ClinicalTrials.gov FUNDUS ALBIPUNCTATUS PubMed Driessen CA, ...
    https://medlineplus.gov/genetics/condition/fundus-albipunctatus - Genetics
  7. Maternally inherited diabetes and deafness 
    ... diabetes.Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
  8. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
    ... syndrome Genetic Testing Registry: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome HANAC syndrome National Organization for Rare Disorders (NORD) ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE ...
    https://medlineplus.gov/...athy-aneurysms-and-muscle-cramps-syndrome - Genetics
  9. Spondyloepiphyseal dysplasia congenita 
    ... sensitive tissue at the back of the eye (retinal detachment). Some people with SED congenita have hearing loss.Some disorders, such as spondyloepiphyseal dysplasia with premature-onset arthrosis ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  10. Stargardt macular degeneration 
    ... STGD Genetic Testing Registry: Severe early-childhood-onset retinal dystrophy Genetic Testing Registry: Stargardt Disease 3 Stargardt disease National Organization for Rare Disorders (NORD) ClinicalTrials.gov STARGARDT DISEASE 3; STGD3 STARGARDT ...
    https://medlineplus.gov/.../condition/stargardt-macular-degeneration - Genetics
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