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By Francisco Fraga Santini Canto
Retina Clinic
Co-author(s): Dr. André Maia, Retina Clinic, São Paulo - Uploaded on Jan 20, 2024.
- Last modified by Joshua Friedman on Jan 22, 2024.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- autossomalrecessive, ciliopathies
- Photographer
- Leonardo Hideki Nomachi Naito
- Imaging device
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Fundus camera
Silverstone - Ultra-widefield - Description
- Fundus autofluorescence of a 57-year-old woman with macular distrophy in both eyes. Patient also had neurological findings. Genetic test showed a pathogenic mutation of gene AHI1 confirming Joubert Syndrome.
