Autosomal dominant megalocornea with congenital glaucoma: evidence for germ-line mosaicism

After the presentation of a newborn with congenital glaucoma, four additional members in two generations of a family were found to be affected with megalocornea. The absence of the disorder in the parents of three affected siblings can be explained by autosomal recessive inheritance, autosomal dominant inheritance or germ-line mosaicism. Each affected member showed iris stroma hypoplasia, miotic pupils and defects of the iris pigment epithelium. Less frequently encountered features included increased axial length, high myopia and congenital cataract. Most of the abnormalities can be accounted for by a disturbance in the growth and development of neural crest cells of the anterior chamber angle.