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A 32-year-old Hispanic woman with ocular albinism presented with a congenital horizontal pendular nystagmus (see video). Other than being fair-skinned, the patient had no cutaneous manifestations of albinism, and pigmentation of body hair was intact. The nystagmus was characterized by rapid saccades, but there was no null point, and it was worse on rightward gaze than on leftward gaze. The patient reported no oscillopsia (the sensation that viewed objects are moving back and forth). She had bilateral iris transillumination and foveal hypoplasia, and her bilateral visual acuity was 20/200. Two of the patient's sisters also had ocular albinism; both had nystagmus, and one had cataracts. Ocular albinism is predominantly an X-linked disorder, though other forms exist. It occurs in approximately 1 in 50,000 people in the United States. Ocular albinism differs from oculocutaneous albinism (classic albinism) in that it mainly affects the eyes, with minimal skin involvement, whereas the latter disorder affects both the eyes and the skin. When there is macular involvement, the eye constantly searches for a clear image, causing the pendular nystagmus.
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