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BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1
Juliet O Essilfie1, Christian J Sanfilippo2, David Sarraf3
1Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California.
Retinal Cases & Brief Reports
|November 21, 2017
Summary
This study reports a bull's eye maculopathy case linked to RDS/PRPH2 and ROM-1 gene mutations. Fundus autofluorescence imaging aided in identifying these genetic markers.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Bull's eye maculopathy is a retinal condition characterized by specific changes in the macula.
- Genetic mutations are increasingly recognized as a cause of inherited retinal diseases, including maculopathies.

