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Ophthalmic Images
September 10, 2020

Ultra-widefield Fundus Image in Oculocutaneous Albinism

Author Affiliations
  • 1Department of Ophthalmology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • 2Department of Ophthalmology, Stanford University, Palo Alto, California
  • 3Department of Neurology and Neurological Sciences, Stanford University, Palo Alto, California
JAMA Ophthalmol. 2020;138(9):e200864. doi:10.1001/jamaophthalmol.2020.0864

A man in his early 20s with cutaneous albinism was referred to an ophthalmologist for evaluation of nystagmus and photophobia. He denied oscillopsia. His best-corrected visual acuity was 20/80 OU. An anterior segment examination revealed iris transillumination defects in both eyes. Both of his fundi showed pronounced hypopigmentation of retinal pigmented epithelium with clearly visualized choroidal vessels (Figure). Bilateral foveal light reflexes were absent, corresponding with foveal hypoplasia. A lack of foveal umbo and increased foveal thickness were visible on optical coherence tomography.1 Conjugate bilateral pendular horizontal nystagmus was presented in all gazes, with decreased amplitude and frequency with convergence. His hair and skin were hypopigmented. His provisional diagnosis was oculocutaneous albinism. He declined genetic testing.

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