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.
Padungkiatsagul T, Leishangthem L, Moss HE. Ultra-widefield Fundus Image in Oculocutaneous Albinism. JAMA Ophthalmol. 2020;138(9):e200864. doi:10.1001/jamaophthalmol.2020.0864
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