Unexplained Bilateral Optic Atrophy for Decades

This is a case report on a patient who had a 40-year history of gradual vision loss and only recently diagnosed with autosomal dominant optic atrophy (ADOA) secondary to an OPA1 gene mutation. To the best of our knowledge, this is the longest duration between symptoms and diagnosis for a patient with ADOA.

UPFRONT Case Section Editor: Larry Frohman, MD Unexplained Bilateral Optic Atrophy for Decades T his is a case report on a patient who had a 40-year history of gradual vision loss and only recently diagnosed with autosomal dominant optic atrophy (ADOA) secondary to an OPA1 gene mutation. To the best of our knowledge, this is the longest duration between symptoms and diagnosis for a patient with ADOA. The 3 main takeaways from this presentation include (1) the diagnosis of painless, bilateral optic atrophy in the setting of chronic visual loss should be concerning for ADOA secondary to OPA1 gene mutation; (2) clinicians should be aware that an autosomal dominant inheritance pattern does not present similarly in all patients; and (3) OPA1 should be considered in unexplained bilateral optic atrophy regardless of the duration of symptoms. The case is available to download through the following link: https://journals.lww.com/jneuro-ophthalmology/Documents/ JNO%20Upfront%20Cases/UPFRONT%20Case%2015% 20-%20Unexplained%20Bilateral%20Optic%20Atrophy% 20for%20Decades.pptx. Acute, Bilateral Visual Loss in a Pediatric Patient T his case describes an 11-year-old boy with acute, bilateral visual loss in the setting of profound bilateral optic disc edema and peripapillary hemorrhages. MRI revealed enhancement of his optic nerves with sparing of the optic chiasm. The patient was treated with IV steroids, IV immunoglobulin, and plasmapheresis during his hospital stay. His vision dramatically improved in both eyes after treatment. The case is available to download via the following link: https://journals.lww.com/jneuro-ophthalmology/Documents/ JNO%20Upfront%20Cases/UPFRONT%20Case%2013% 20-%20Acute%2C%20Bilateral%20Visual%20Loss%20in %20a%20Pediatric%20Patient.pptx. Ophthalmoplegia in Patient With Papilledema A patient presents with significant ophthalmoplegia in setting of papilledema. Patient was eventually diagnosed with bilateral dural venous sinus stenosis and had UPFRONT Case: J Neuro-Ophthalmol 2022; 42: e609-610 Chaow Charoenkijkajorn, MD Junsang Cho, MD Andrew G. Lee, MD Department of Ophthalmology (CC), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; Department of Ophthalmology (JC), Vanderbilt Eye Institute, Nashville, Tennessee; Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa. Address correspondence to Andrew G. Lee, MD, Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, 6560 Fannin Street, Ste 450, Houston, TX 77030; E-mail: [e-mail] The authors report no conflicts of interest. Elizabeth H. Roll, MD Larry P. Frohman, MD Roger E. Turbin, MD Institute of Ophthalmology and Visual Science, Rutgers New Jersey Medical School, Newark, New Jersey. Address correspondence to Elizabeth H. Roll, MD, Institute of Ophthalmology & Visual Science, Rutgers New Jersey Medical School, 90 Bergen St. ‐ D.O.C ‐ Suite 6100, Newark, NJ 07103; E-mail: [e-mail] The authors report no conflicts of interest. significant improvement of vision and extraocular motility after stenting. The case is available to download via the following link: https://journals.lww.com/jneuro-ophthalmology/Documents/ JNO%20Upfront%20Cases/UPFRONT%20Case%2014% 20-%20Ophthalmoplegia%20in%20Patient%20with%20 Papilledema.pptx. e609 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.