The Congenital Aniridia in One Family.

Cho, Yoon Ae

Case Report

Journal of the Korean Ophthalmological Society 1979;20(1):113-118.
Published online January 1, 1979.

The Congenital Aniridia in One Family.

Yoon Ae Cho

Department of Ophthalmology, Presbyterian Medical Center, Daegu, Korea.

한 가족에 발생한 선천성 무홍채증

조윤애 ( Yoon Ae Cho )

Abstract

Aniridia or irideremia is characterized by reduction of iris or absence of total iris, but a rudimentary iris is always present in most cases. This congenital anomaly is familial and the transmission is strongly dominant by an autosomal gene. It demonstrates high penetrance and variable expression. Aniridia is mainly due to a primary defect in development of the neural ectoderm and an aberrant development of the mesoderm. Glaucoma and cataract in the eye is frequently complicated with other deformities of the body and the treatment is not satisfactory. The author have experienced a case of aniridic family which is composed of 7 persons. Of these, the father, one son and 3 daughters are affected with aniridia, cataract, nystagmus and amblyopia and the mother and one son are healthy. The author reports this cases with the review of literature.