"Mud-Splatter" of Posterior Pole and Peripheral Radial Streaks in a Carrier of Ocular Albinism

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File number: 28832


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    OA Type 1 Mud Splatter and Radial Streaks
    ocular albinism, Nettleship-Falls ocular albinism
    Gretchen Harper
    Imaging device
    Fundus camera
    Optos California
    14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks, which are very prominent in this late phase FA of the right eye. Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

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