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By Kimberly Wakester
Retina Consultants of Carolina, P.A. - Uploaded on Jul 18, 2025.
- Last modified by Joshua Friedman on Jul 21, 2025.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- Wagner's Syndrome, secondary pigmentary degeneration
- Photographer
- Kimberly Wakester, COA, OCT-C
- Imaging device
-
Fundus camera
Optos California - Description
- Optomap RGB and AF of an 63-year-old man with secondary pigmentary degeneration of the retina. Patient's Spark genetic testing revealed heterozygous mutations of unknown significance in LRP5, COL18A1, CPLANE1, SLC24A1 and VCAN. Clinical findings most consistent with Wagner's Syndrome (VCAN mutation, autosomal dominant). Will continue follow up care every 6 months with dilated exam and repeat OCT and Optos imaging.
