Purpose: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism.
Methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth.
Results: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination.
Conclusion: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.