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Buphthalmos with Aniridia in a Nigerian Child. A Case Report
Abstract
This report presents a rare case of buphthalmos with aniridia in a six year old Nigerian boy who presented with bilateral large eyeballs from birth with associated loss of vision. Had initially presented in the eye clinic of the
Olabisi Onabanjo University Teaching Hospital at the age of 18 months (five years ago) with a diagnosis of congenital glaucoma but defaulted due to lack of funds for surgery. Examination this time not only supported the
initial diagnosis but also revealed aniridia. On family contact tracing, his father, elder sister also had aniridia suggesting an autosomal dominant form of aniridia. This is a case of aniridia in two generations of the same family
in keeping with autosomal dominant inheritance in association with primary congenital glaucoma. The rare possibility of primary congenital glaucoma with aniridia in a Nigerian should be considered in all cases of congenital glaucoma and a careful family history is important in order to determine the type of inheritance.
Olabisi Onabanjo University Teaching Hospital at the age of 18 months (five years ago) with a diagnosis of congenital glaucoma but defaulted due to lack of funds for surgery. Examination this time not only supported the
initial diagnosis but also revealed aniridia. On family contact tracing, his father, elder sister also had aniridia suggesting an autosomal dominant form of aniridia. This is a case of aniridia in two generations of the same family
in keeping with autosomal dominant inheritance in association with primary congenital glaucoma. The rare possibility of primary congenital glaucoma with aniridia in a Nigerian should be considered in all cases of congenital glaucoma and a careful family history is important in order to determine the type of inheritance.
