"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. 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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