ANTERIOR SEGMENT MALFORMATIONS IN 18Q-(DEGROUCHY) SYNDROME

The authors examined two patients with deletions of the terminal end o f the long arm of chromosome 18. The ocular findings in one patient wi th 46, XX, del 18 (q21) consisted of hypertelorism, epicanthus, strabi smus, myopia, microphthalmia, microcornea, corneal opacities, iris hyp oplasia with full thickness defects, corectopia and large peripapillar y staphylomata. The second patient with 46, XX, del (18) (pter --> q21 .2 = q22 --> qter), inv (21) (q21 --> p12 = q21 --> qter) only had epi canthus, strabismus, myopia and peripapillary crescents. Based on the findings in these two patients and on a review of previously reported patients with del 18 qter it appears that the loss of band 18q23 may b e responsible for malformations of the anterior segment in the 18q-syn drome.