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By Joshua Friedman
- Uploaded on Apr 10, 2025.
- Last modified by Joshua Friedman on Apr 10, 2025.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- Photographer
- Stephen Tsang, MD, PhD
- Description
- LCA type 12 due to pathogenic mutations in RDH12. 13-year-old male with a visual acuity of 20/80 and 20/300 in the right and left eye, respectively. There is extensive pigment migration in the peripheral retina and macula. Like RPE65, there is widespread hypoautofluorescent signal, however, the peripapillary retina is uniquely spared in this form of LCA. On OCT, there is almost complete loss of the retina centrally.
