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8 Possible Causes for Cataracts Variably Present at Birth

  • Ectopia Lentis

    The appearance of a cataract is extremely variable and the descriptive terminology limited only by the imagination of the examiner.[vin.com] Congenital (present at birth), developmental (appearing between birth and 8 years of age, and age-related (occurring after 8 years of age) are terms that can be applied relative[vin.com]

  • Myotonic Dystrophy

    The symptoms show enormous variability ranging from severe symptoms present at birth to the development of cataracts as the only symptom in middle age.[musculardystrophyuk.org] It described that symptoms show enormous variability ranging from severe symptoms present at birth to the development of cataracts as the only symptom in middle age.[express.co.uk] […] factsheets on: congenital myotonic dystrophy the myotonic dystrophies The condition primarily affects the hands and ankles but also affects other organs and is associated with cataracts[musculardystrophyuk.org]

  • Congenital Cataract

    Results: All patients presented with bilateral cataract at birth but the systemic phenotype was variable, including short stature, skeletal abnormalities, and dysmorphism-features[ncbi.nlm.nih.gov]

  • Alport Syndrome

    MYH9 -related disorders (MYH9RD) are characterized by large platelets and thrombocytopenia, both of which are present from birth.[ncbi.nlm.nih.gov] MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting[ncbi.nlm.nih.gov]

  • Genetic Anomaly of Leukocytes

    ., 40% of platelets 3.9 μm in diameter) and thrombocytopenia (platelet count 9 /L), both of which are present from birth.[ncbi.nlm.nih.gov] MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting[ncbi.nlm.nih.gov]

  • Congenital Non-Bullous Ichthyosiform Erythroderma ARCI2

    The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma[nectarmutation.org] Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay[nectarmutation.org]

  • Intellectual Disability - Alacrima - Achalasia Syndrome

    The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma[nectarmutation.org] Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay[nectarmutation.org]

  • Ichthyosis - Oral and Digital Anomalies Syndrome

    -Microphthalmia and cataracts may be present.[eyewiki.aao.org] A significant amount of clinical variability exists.[eyewiki.aao.org] -Presence of retrolental fibrous and vascular retinal changes at birth (leukocoria) with progressive changes through childhood or adolescence.[eyewiki.aao.org]

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