A 38-year-old male complains of poor vision since childhood

Key Points

Examination

Differential diagnoses include ocular albinism, oculocutaneous albinism, autosomal dominant foveal hypoplasia,¹ isolated foveal hypoplasia,^2,3 and associated conditions such as aniridia, Chediak-Higashi syndrome, and Hermansky-Pudlak syndrome. In this patient, the lightly colored hair, lightly pigmented skin, transillumination of the irides, and lightly pigmented fundus make oculocutaneous albinism the most likely diagnosis.

Clinical course

We discussed with the patient that his poor vision was the result of a congenital condition and that a strong reading addition may help him with his near vision.

Discussion

Albinism refers to a group of genetic disorders characterized by a deficiency in the melanin system. Clinically, patients can present with hypopigmentation of the hair, skin, and eyes (oculocutaneous albinism, [OCA]) or hypopigmentation that appears limited to the eyes (ocular albinism [OA]). While the skin may clinically appear normal in patients with ocular albinism, histopathologic examination of skin biopsy specimens of affected patients and female carriers are abnormal.⁴ Ocular albinism can be X-linked or autosomal recessive while oculocutaneous albinism is usually autosomal recessive.