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

file Retina Image Bank

File number: 28833


Comments

    Sign in to comment.

    Rating
    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 that are very prominent on this late phase FA OS. 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.

    Related files