Familial hypoplasia of the iris stroma associated with glaucoma.

Familial hypoplasia of the iris stroma associated with glaucoma has been recorded on four occasions, this being the first report in the English literature. In all cases the condition has been inherited as an autosomal dominant trait. Berg (1932) described thirteen men and nine women affected in six generations. They were first seen between the ages of I6 and 43 years, and eight eventually became blind in both eyes. The irides of the affected patients were described as thin, with absence of normal surface markings. The colour varied from "dark brown", "muddy brown", and "dark grey-brown" to "deep grey" and "grey blue". Only one patient had a possibly normal iris colour, described simply as "brown". The pigment epithelium was intact in all patients except one who had a small circular defect about I mm. diameter; this was associated with ectasia of the superior limbus. The pupil was central and active in all of them. Two had "hydrophthalmia" but they were first seen at the ages of I 7 and 2 I years respectively. Hambresin and Schepens (I 946) reported ten men and nine women affected in six generations. All became blind by the age of 40 years and one child was already blind at the age of 9. The irides of the affected patients were always a dark chocolate brown, with easily visible iris vessels and no normal surface markings. The members of this family were aware of the significance of this appearance and they always scrutinized the eyes of each infant at birth. "Si ce sont des yeux couleur chocolat, disent-ils, c'est encore la mauvaise vue de la famille". The pupils were central and active. In spite of the severity of the glaucoma none of these patients had buphthalmos although one did have a myopia of -14 D. Hambresin and Schepens also found that their affected patients had a "choroiditis"; in some it was diffuse, in others confined to the posterior pole. In the peripheral fundus there were small yellow spots with darker centres reminiscent of syphilis. Fransois, Deweer, and van den Berghe (I950) described six women and four men in six generations who had glaucoma and normal open angles. Six of these patients have become blind-two in the fifth decade. The irides of the affected patients were described as "greyish" and this was considered to be a bad prognostic sign by members of the family. Unfortunately, no further details of the appearance of the iris are given and one cannot be certain that they had hypoplasia of the iris stroma, although Waardenburg, Franceschetti, and Klein (i 96 I) included them under this heading. McCulloch and MacRae (I950) described fourteen women and four men in five generations with glaucoma and abnormal irides. Ten were examined by the authors and nine