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      Leber congenital amaurosis and its association with keratoconus and keratoglobus.

      Journal of pediatric ophthalmology and strabismus
      Adolescent, Adult, Blindness, congenital, etiology, Child, Child, Preschool, Corneal Diseases, complications, Female, Humans, Keratoconus, Male, Optic Atrophies, Hereditary, Pedigree, Prevalence, Visual Acuity

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          Abstract

          Leber congenital amaurosis has been associated with keratoconus and it has been postulated that this is due to eye rubbing, the oculo-digital sign, because of poor vision. Six schools for the blind were visited, and 174 children with a visual acuity of less than 3/60 examined. Thirty-five children had Leber amaurosis, and 10 of these had keratoconus (29%) and one had keratoglobus (3%). The six pedigrees of the cases with Leber amaurosis and keratoconus are presented in detail. Only 3 of the 139 other blind children had keratoconus (P < .05) and 1 had keratoglobus. Keratoconus seems specifically associated with Leber amaurosis, probably due to genetic factors, rather than poor visual acuity per se.

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