Cryptophthalmos syndrome. Clinical and histopathological findings

The clinical and histological findings in two cases of complete bilateral cryptophthalmos from two families are described. In one family, the genetic mode of transmission is most probably autosomal recessive. The parents were first cousins and from the ten deliveries only two children were alive. Seven offspring died soon after birth. At least two of these had complete bilateral cryptophthalmic features in addition to the described offspring. In the other family, the mode of transmission is unclear as the offspring was the first born of non-consanguineous parents with negative family history. Both cases showed similar external clinical appearance and anomalies. Chromosomal studies revealed normal female (first case) and male (second case) karyotypes. The latter, who died a few minutes after delivery, had bilateral agenesis demonstrating features compatible with Potter's syndrome. Apart from the complete covering of the eye globes with skin, the lack of eyebrows and eyelids, the two patients showed also similar histological ocular findings. The eyes in both cases demonstrated well developed posterior segment architecture including optic nerves, with a complete early arrest of anterior segment development and differentiation.