A Rare Case of Complete Cryptophthalmos and Suspected Fraser’s Syndrome in a Female Neonate

Abstract

Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser’s syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent’s decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.