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Ophthalmic Images
December 15, 2021

Oculocutaneous Albinism

Author Affiliations
  • 1Department of Ophthalmology, Centro Universitário Christus (Unichristus), Fortaleza, Ceará, Brazil
  • 2Department of Ophthalmology, Centro de Laser e Diagnose Ocular (CLDO), Fortaleza, Ceará, Brazil
JAMA Ophthalmol. 2021;139(12):e214068. doi:10.1001/jamaophthalmol.2021.4068

A 38-year-old man presented with worsening near vision in both eyes in the past semester. The patient’s visual acuity was 20/40 OD and 20/20 OS. Slitlamp examination revealed hypopigmented irises. Widefield fundus images showed a reduced foveal reflex and obvious choroidal vasculature associated with reduced melanin in both eyes (Figure). The patient was diagnosed with oculocutaneous albinism. This condition is an uncommon autosomal recessive genetic disorder that compromises the production of melanin. Affected individuals typically have impaired visual acuity, which may be associated with photosensitivity and increased rates of skin cancer.1 The patient was prescribed refractive correction and informed about his condition.

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