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Results 11 - 20 of 22 for Congenital blindness
  1. PDE6B gene 
    ... gene has been found to cause autosomal dominant congenital stationary night blindness, which is characterized by the inability to see ... Artemyev NO. Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. ...
    https://medlineplus.gov/genetics/gene/pde6b - Genetics
  2. Nearsightedness 
    ... as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  3. PPP2R5D-related intellectual disability 
    ... Autosomal dominant mental retardation 35 Genetic Testing Registry: Congenital stationary night blindness 1G National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  4. Norrie disease 
    ... Norrie disease. Anderson-Warburg syndrome Atrophia bulborum hereditaria Congenital progressive oculo-acoustico-cerebral degeneration Episkopi blindness Fetal iritis syndrome Norrie syndrome Norrie's disease ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics
  5. Sialidosis 
    ... vision problems, including impaired color vision or night blindness. An eye ... congenital, infantile, and juvenile forms. The features of congenital ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  6. Asparagine synthetase deficiency 
    ... hyperekplexia) to unexpected stimuli. Some affected individuals have blindness due to impairment of the area of the ... for processing vision, called the occipital cortex (cortical blindness).People with asparagine synthetase deficiency typically do not ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  7. Early-onset glaucoma 
    ... to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, ... without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary ...
    https://medlineplus.gov/genetics/condition/early-onset-glaucoma - Genetics
  8. Isolated ectopia lentis 
    ... can lead to further vision problems and possible blindness.In individuals with isolated ectopia lentis, each eye ... not show signs and symptoms of the condition. Congenital ectopia lentis Ectopia lentis Lens subluxation Subluxation of ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  9. X-linked juvenile retinoschisis 
    ... eye abnormalities can further impair vision or cause blindness. The prevalence of X-linked juvenile retinoschisis is ... cannot pass X-linked traits to their sons. Congenital X-linked retinoschisis Degenerative retinoschisis Juvenile retinoschisis X- ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics
  10. Weill-Marchesani syndrome 
    ... pressure in the eye and can lead to blindness.Occasionally, heart defects or an abnormal heart rhythm ... condition. Brachydactyly-spherophakia syndrome Brachymorphy with spherophakia syndrome Congenital mesodermal dysmorphodystrophy Marchesani syndrome Marchesani-Weill Syndrome Spherophakia- ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
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