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By Taylor J Slingsby, MD
Slingsby & Huot Eye Associates - Uploaded on Feb 6, 2024.
- Last modified by Joshua Friedman on Feb 7, 2024.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- usher's syndrome, retinitis pigmentosa, inherited retinal disease
- Photographer
- Taylor Slingsby, MD, Slingsby & Huot Eye Associates, Rapid City, SD
- Imaging device
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Fundus camera
Optos ultra-widefield Autofluorescence retinal imaging - Description
- 54-year-old woman with bilateral, symmetric RPE degeneration. Her vision was 20/20 vision in each eye and she reported no family history of inherited retinal dystrophy. Genetic testing was positive for two pathogenic variants in ARSG, associated with autosomal recessive Usher syndrome. She also had one pathogenic (low penetrance) variant and one variant of unknown significance in ABCA4 as well as one likely pathogenic variant in PDE6A.
---thumb.jpg/image-square;max$79,0.ImageHandler "Retinitis Pigmentosa")
