Figure 1.

Clinical Images of the CPAMD8-Associated Anterior Segment Dysgenesis Phenotype

(A and B) Proband from family 1, after pupil dilation. The pupils are displaced nasally, and the irides are hypoplastic with focal areas of iris pigment loss. There is ectropion uveae (arrow).

(C and D) Proband from family 2. The pupils are displaced nasally, and the irides are thin and atrophic. The outline of the lens can be seen through the iris on retroillumination (white arrow). There are ectropion uveae and finger-like remnants arising from the collarette, suggestive of persistent pupillary membrane (red arrows).

(E and F) Individual II:2 of family 3, showing temporally displaced pupils and mild ectropion uveae (white arrow). In the right eye there is an inferior surgical iridotomy (black arrow).

(G) Individual II:3 of family 3. The pupils have been dilated and are displaced temporally. The irides are atrophic. The right eye has had cataract surgery and there is nuclear sclerosis of the left lens.

(H) Images showing marked iris transillumination with loss of the iris pigment epithelium in individual II:3 of family 3 (left) and the proband from family 2 (right). RE, right eye; LE, left eye.