1. Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography

    Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography

    A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence ...

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