Autosomal dominant typical coloboma associated with unilateral pseudoptosis, myopia and cataract.
Ocular coloboma is considered to be hereditary ocular malformation which can manifest itself in various conditions ranging from iris defect to rudimentary cystic eye globe. We describe a three generation family affected by autosomal dominant typical coloboma, unilateral pseudoptosis, myopia and cataract. Correction of refractive errors improved their visual performance and prevented amblyopia. Genetic consultation was given in order to prevent blindness. We recommend a multidisciplinary approach regarding management of colobomatous patients.
Porges
Y
Y
Bindura Eye Department, Bindura Hospital, Mashonaland Central, Zimbabwe.
D000328:Adult; D001763:Blepharoptosis / Q000151:congenital* / Q000235:genetics / Q000517:prevention & control; D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications* / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009216:Myopia / Q000151:congenital* / Q000235:genetics / Q000517:prevention & control; D010375:Pedigree