Neurodegenerative Maculopathy Associated with GLUT1 deficiency syndrome

Abstract

Purpose: The purpose of this case report is to raise awareness about the association between GLUT 1 deficiency syndrome and maculopathy, as well as to emphasize the need for comprehensive evaluation and genetic testing in patients presenting with unexplained vision loss or macular abnormalities.

Method: The patients medical history, clinical presentation, ophthalmic findings and genetic testing results were reviewed and analysed.

Results: Both patients were found to have mutations in the SLC2A1 gene, confirming the diagnosis of GLUT1 deficiency syndrome. Ophthalmologic examination revealed bilateral macular abnormalities, including degenerative cavitations in the fovea.

Conclusion: This case report highlights the association between GLUT1 deficiency syndrome especially in young patients, with maculopathy which is detected in the presence of accompanying neurological problems and movement disorders.