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Make your diagnosis in the comments, and look for the answer in next month’s Blink.

Last Month’s Blink

Albinism

Written by Michael W. Stewart, MD, and Jason Calhoun, Mayo Clinic, Jacksonville, Fla. Photo by Jason Calhoun.

A 47-year-old woman underwent a routine ophthalmic evaluation for diabetic eye disease. She reported suffering from poor visual acuity and light sensitivity her entire life, but she had no recent changes in vision. The general physical examination revealed white hair and pale skin. Her best-corrected visual acuity measured 20/400 OU, and she had horizontal nystagmus. Color photographs of the fundus revealed an absence of pigmentation, and the choroidal vessels were easily visualized (Fig. 1). The slit- lamp examination showed hypopigmentation of the iris with transillumination throughout (Fig. 2). The fovea could not be found on optical coherence tomography scanning (Fig 3).

A more detailed medical history confirmed that the patient had oculocutaneous albinism. This autosomal recessive condition, characterized by decreased synthesis of melanin, affects 1 in 20,000 people. Ocular abnormalities are often noted at birth but remain stable throughout life.

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