title: Leber congenital amaurosis and its association with keratoconus and keratoglobus.
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.
authors.affiliation: St John Ophthalmic Hospital, Jerusalem, Israel.
authors.forename: M J
authors.initials: MJ
authors.lastname: Elder
mesh_terms: D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003316:Corneal Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000150:complications*; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000150:complications*; D010375:Pedigree; D015995:Prevalence; D014792:Visual Acuity