Dominant macular colobomata

J Pediatr Ophthalmol Strabismus. 1990 May-Jun;27(3):148-52. doi: 10.3928/0191-3913-19900501-11.

Abstract

Hereditary bilateral macular colobomata are not a consequence of an anomalous closure of the fetal fissure. Their extreme rarity, their lack of embryological explanation, and their morphologic similarity to postinflammatory congenital macular scars called the hereditary-malformative etiology of this entity in question. The authors describe a four generation family with seven affected members with isolated autosomal dominant bilateral macular colobomata.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coloboma / genetics*
  • Coloboma / pathology
  • Female
  • Fundus Oculi
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Macula Lutea / abnormalities*
  • Male
  • Middle Aged
  • Pedigree
  • Visual Acuity