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Show 357 Optic nerve T2 signal intensity and caliber reflect clinical severity in genetic optic atrophy Mark Aurel Nagy 1, Mary Cunnane 2, Amy Juliano 2, Janey Wiggs 2, Paul Caruso 2, Eric Gaier 2 1 UCSF, 2 Harvard Medical School Introduction: Genetic optic atrophies comprise phenotypically heterogenous disorders of mitochondrial function. We aimed to correlate quantitative neuroimaging findings of the optic nerves in these disorders with clinical measures. Methods: A subset of a retrospective database of 111 patients with bilateral optic atrophy referred for genetic testing who had accessible magnetic resonance (MR) images of the orbits and/or brain were analyzed. T2 STIR signal and optic nerve caliber were quantified according to a standardized protocol and normalized to internal standards. Inter-reader reproducibility was assessed. Clinical features were analyzed according to MR imaging features. Results: Within our database, 7 patients with pathogenic variants in OPA1, 3 patients with Wolfram syndrome, and 3 patients with Leber hereditary optic neuropathy had MRI orbital imaging available for analysis. No patient had MRI findings suggestive of a cause of optic atrophy aside from their respective genetic diagnoses. Compared to control patients, optic atrophy patients had significantly increased T2 STIR signal and decreased optic nerve caliber after internal normalization (p=0.0016 and 0.00012 respectively). Imaging metrics significantly correlated with degree of visual acuity, cup/disc ratio, and abnormal visual field testing. Inter-reader reliability correlation coefficients were 0.98 (p=0.00036) and 0.74 (p=0.0025) for normalized STIR and nerve caliber, respectively. Conclusions: This study uniquely demonstrates that normalized optic nerve STIR signal and optic nerve caliber significantly correlate with visual acuity, cup/disc ratio, and perimetric performance in patients with genetic optic atrophy. A formalized protocol as specified in this manuscript to characterize these differences on MR imaging may help to guide accurate and expedient diagnostic evaluation of optic neuropathy in the future. References: 1. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;18(11):1144-1160. doi:10.1038/sj.eye.6701591 2. Toomes C. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 2001;10(13):1369-1378. doi:10.1093/hmg/10.13.1369 3. Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C. 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J Neurol. 2015;262(5):1216-1227. doi:10.1007/s00415-015-7696-5 Keywords: Neuroimaging, Optic neuropathy, Genetic disease Financial Disclosures: Mark Aurel Nagy: Apertura - licensing royalites; Mary Cunnane; Amy Juliano; Janey Wiggs; Paul Caruso; Eric Gaier Grant Support: This work was partially supported by NIH/NIGMS T32GM007753 (MAN), NIH/NEI K08 EY030164 (EDG) and P30 EY014104 (JLW), Alcon Research Institute (JLW). Contact Information: Mark Aurel Nagy, aurel.nagy@UCSF.edu 512 | North American Neuro-Ophthalmology Society |
