Aniridia associated with ptosis in three generations of the same family.
Aniridia is a spectrum of abnormalities of the iris anatomy, which range from a total absence of the iris to a mild stromal hypoplasia with normal pupil. Aniridia associated with ptosis in three generations of the same family is described. The cases fit the autosomal dominant familial aniridia (AN1) type, a genetic form of congenital aniridia characterised by isolated ocular defects.
Wammanda
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RD
Department of Paediatrics, Ahmadu Bello University Teaching Hospital, Zaria, Nigeria. wammanda@yahoo.com
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D000293:Adolescent; D015783:Aniridia / Q000150:complications* / Q000235:genetics; D001763:Blepharoptosis / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree