Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism

We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing reveal...

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Veröffentlicht in:Ophthalmic surgery, lasers & imaging retina. - 2013. - 55(2024), 6 vom: 11. Juni, Seite 349-353
1. Verfasser: Arora, Neha (VerfasserIn)
Weitere Verfasser: Hoyek, Sandra, Patel, Nimesh A
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2024
Zugriff auf das übergeordnete Werk:Ophthalmic surgery, lasers & imaging retina
Schlagworte:Case Reports Journal Article Membrane Transport Proteins OCA2 protein, human