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

• By John S. King, MD
  Retina Associates, PA
  Co-author(s): Paul Hruby, MD
• Uploaded on Jan 22, 2019.
• Last modified by Caroline Bozell on Jan 24, 2019.

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.

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