Related Experiment Video
Updated: Mar 16, 2026
Author Spotlight: Understanding Retinal Vessel Resilience and Disease Progression
Published on: January 12, 2024
RETINAL VEIN OCCLUSION IN A PATIENT WITH MATERNALLY INHERITED DIABETES AND DEAFNESS
Christian J Sanfilippo1, Pradeep Prasad, David Sarraf
1Jules Stein Eye Institute, UCLA, Los Angeles, California.
Purpose:
To report a case of maternally inherited diabetes and deafness complicated by branch retinal vein occlusion and cystoid macular edema.
Methods:
Retrospective case report. Multimodal imaging including spectral domain optical coherence tomography, en face optical coherence tomography, and fundus autofluorescence was preformed, and the findings are presented.
Findings:
A 58-year-old female with a history of diabetes mellitus, hearing loss, and a previous diagnosis of age-related macular degeneration presented with decreased vision in the right eye. Clinical examination and multimodal imaging demonstrated a right inferior branch retinal vein occlusion complicated by cystoid macular edema and bilateral maculopathy suspicious for maternally inherited diabetes and deafness. Genetic testing confirmed an A3243G mitochondrial mutation.
Conclusion:
Multimodal retinal imaging is a key to guide diagnosis of rare genetic diseases such as maternally inherited diabetes and deafness. We report the unusual presentation of maternally inherited diabetes and deafness complicated by branch retinal vein occlusion and cystoid macular edema.
