Oculocutaneous albinism type 1B in a pediatric patient with an unaffected twin sibling

Abstract

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by impaired melanin biosynthesis. It is associated with a partial to complete absence of pigmentation in the skin, hair, and eyes, along with varying degrees of visual impairment. Four-year-old twin sisters, born to parents in a third-degree consanguineous marriage, were followed in the Dermatology Outpatient Department after one twin was noted at birth to have features suggestive of OCA, whereas the co-twin remained unaffected. The affected child presented at birth with hypopigmented skin; white scalp hair, eyelashes, and eyebrows; and gray-green irides. There was no similar family history. Nystagmus was observed at 1 month of age, after which regular ophthalmologic follow-up was initiated and maintained. As the child grew, there was no significant change in skin pigmentation or tanning; however, the hair gradually developed a yellow-gold discoloration. Photophobia was also present. Genetic counseling was provided to the family. Preventive advice included avoiding excessive sun exposure, applying sunscreen regularly, wearing protective clothing, and wearing broad-brimmed hats and sunglasses.