A 5-year-old girl with abnormalities of the skin and hair that were consistent with albinism had nystagmus and photophobia. Her skin color varied from yellow to milky white and hypopigmentation was appreciated by comparison with other family members.1 She received ultra-widefield laser scanning imaging (Daytona P200T; Optos) to observe the pigment of the fundus to make a definitive diagnosis of oculocutaneous albinism. The vortex veins and a hypoplasia of the macula were noted (Figure). Oculocutaneous albinism is characterized by photophobia, nystagmus, fundus hypopigmentation, and the absence of foveal pit.2
Li H, Li J, Hu Q. Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism. JAMA Ophthalmol. 2020;138(2):e190399. doi:10.1001/jamaophthalmol.2019.0399
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