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2 Possible Causes for Progressive Visual Impairment Starting Early Childhood

  • Usher Syndrome Type 3B

    Summary Epidemiology Prevalence is estimated at 1/30,000. US is the most common cause of hereditary combined deafness-blindness. Clinical description Onset usually occurs during childhood. Three clinical entities have been defined: type 1 (around 40% of cases), in which hearing loss is congenital, profound,[…][orpha.net]

  • Jalili Syndrome

    In families with Jalili syndrome, all affected individuals had significant visual impairment, starting in infancy or early childhood and progressing with age, and abnormal[egl-eurofins.com] Condition Description Jalili syndrome is an autosomal recessive condition characterized by visual impaiment and amelogenesis imperfecta (abnormal enamel).[egl-eurofins.com] Condition Description Jalili syndrome is an autosomal recessive condition characterized by visual impairment and amelogenesis imperfecta (abnormal enamel).[egl-eurofins.com]

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