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Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy
M Aurel Nagy1, Mary E Cunnane, Amy F Juliano
1Harvard Medical School (MAN, MEC, AFJ, JLW, EDG), Boston, Massachusetts; Department of Ophthalmology (MAN), University of California San Francisco, California; Departments of Radiology (MEC, AFJ) and Ophthalmology (JLW, EDG), Massachusetts Eye and Ear, Boston, Massachusetts; Neuroradiology Division (PAC), Lenox Hill Radiology and Medical Imaging Associates, RadNet, New York, New York; Department of Ophthalmology (EDG), Boston Children's Hospital, Boston, Massachusetts; and Picower Institute for Learning and Memory (EDG), Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts.
Quantitative MRI measures of optic nerve caliber and T2 STIR signal correlate with visual function in genetic optic atrophies. These neuroimaging findings may aid in diagnosing these mitochondrial optic nerve disorders.
Area of Science:
- Neuroimaging
- Ophthalmology
- Genetics
Background:
- Genetic optic atrophies are heterogeneous mitochondrial disorders affecting vision.
- Correlation between neuroimaging and clinical measures in these conditions is not well-established.
Purpose of the Study:
- To correlate quantitative neuroimaging findings of the optic nerves with clinical measures in patients with genetic optic atrophies.
- To investigate the diagnostic utility of MRI in characterizing these disorders.
Main Methods:
- Retrospective analysis of 15 patients with genetically confirmed optic atrophy (OPA1, Wolfram syndrome, Leber hereditary optic neuropathy).
- Quantitative analysis of optic nerve T2 STIR signal and caliber using MRI, normalized to internal standards.
- Comparison of MRI metrics between patients and controls, with assessment of inter-rater reliability and correlation with clinical features.
Main Results:
- Patients with genetic optic atrophy showed significantly increased optic nerve T2 STIR signal (1.6-fold) and decreased caliber (0.72-fold) compared to controls.
- These MRI metrics demonstrated high reliability and significantly correlated with visual acuity, cup-to-disc ratio, and visual field testing.
- The findings highlight objective MRI biomarkers for genetic optic neuropathies.
Conclusions:
- Normalized optic nerve T2 STIR signal and caliber are reliable quantitative MRI biomarkers in genetic optic atrophy.
- These MRI findings correlate significantly with key clinical indicators of visual function.
- A standardized MRI protocol could enhance diagnostic evaluation for patients with genetic optic neuropathies.
