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

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File number: 28835


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    Appears in
    OA Type 1 Mud Splatter and Radial Streaks
    Condition/keywords
    ocular albinism, Nettleship-Falls ocular albinism
    Photographer
    Gretchen Harper
    Imaging device
    Fundus camera
    Optos California
    Description
    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. Hypoautofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium, and vice versa (see 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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