Dominant macular colobomata.
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.
Satorre
J
J
Unidad de Oftalmologia, Hospital Marina Alta del SVS Denia, Alicante, Spain.
López
J M
JM
Martinez
J
J
Piñera
P
P
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