Initializing download.-
By Talhah - Zubair, MD
University of Minnesota
Co-author(s): Talhah Zubair, MD; Hossein Nazari, MD, PhD - Uploaded on Dec 18, 2025.
- Last modified by Joshua Friedman on Dec 19, 2025.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- ocular albinism, carrier, mud splattered, mud-splatter, mud-splattered
- Imaging device
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Fundus camera
Optos Silverstone - Description
- 16 year old girl with incidental mud splatter fundus in both eyes on exam, vision normal. Maternal grandmother and great-grandmother with cone-rod dystrophy. Maternal uncle with albinism and nystagmus. Mud splatter is most common in females who carry the gene for X-linked ocular albinism (OA Type 1). It is a patchy pattern of light and dark spots (hypo- and hyperpigmentation) seen in the peripheral retina, primarily in female carriers of the X-linked gene, caused by random inactivation of the X chromosome (Lyonization) during development. It appears as dark streaks against a bright background on fundus autofluorescence and indicates mosaicism, allowing carrier status to be identified even with normal vision.
