It may be that ankyloblepharon occurs in the absence of other abnormalities but in most cases the globes are small and malformed as well. The combination of upper and lower lid fusion associated with microophthalmia effectively precludes visualization of the globes in many cases, hence the term cryptophthalmos. Lid colobomas may be present in patients with incomplete fusion of the lid margins. There are often adhesions between the lids and cornea while the anterior chamber may have features of Peters anomaly. Posterior chamber abnormalities such as optic nerve hypoplasia and retinal dysplasia with other tissues such as bone may also be present. Rarely patients may respond to bright lights. The condition may be unilateral or bilateral. The lacrimal drainage system may be malformed or absent while the eyebrows are often missing as well. In severe cases, the forehead skin appears to be continuous with that of the cheeks.
Cryptophthalmos is also feature of other malformation syndromes most notably that described by Fraser (219000).