title: Dominant macular colobomata.
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.
authors.affiliation: Unidad de Oftalmologia, Hospital Marina Alta del SVS Denia, Alicante, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Satorre
authors.forename: J M
authors.initials: JM
authors.lastname: López
authors.forename: J
authors.initials: J
authors.lastname: Martinez
authors.forename: P
authors.initials: P
authors.lastname: Piñera
mesh_terms: D000328:Adult; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014792:Visual Acuity