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

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File number: 28830


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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 (photo). 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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