Below are the most recent publications written about "Optic Atrophy" by people in Profiles.
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Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM. Comparing Gene Panels for Non-Retinal Indications: A Systematic Review. Genes (Basel). 2023 03 17; 14(3).
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Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altm?ller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Br?stle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Sch?ls L, N?rnberg P, Zuchner S, Klockgether T, Ramirez A, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578.
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Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 11; 18(11):1143-1150.
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Armstrong B, Fecarotta C, Ho AC, Baskin DE. Evolution of severe lightning maculopathy visualized with spectral domain optical coherence tomography. Ophthalmic Surg Lasers Imaging. 2010 Nov-Dec; 41 Suppl:S70-3.
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Knox DL, Eagle RC, Green WR. Optic nerve hydropic axonal degeneration and blocked retrograde axoplasmic transport: histopathologic features in human high-pressure secondary glaucoma. Arch Ophthalmol. 2007 Mar; 125(3):347-53.
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Lai E, Wollstein G, Price LL, Paunescu LA, Stark PC, Fujimoto JG, Schuman JS. Optical coherence tomography disc assessment in optic nerves with peripapillary atrophy. Ophthalmic Surg Lasers Imaging. 2003 Nov-Dec; 34(6):498-504.
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Shields JA, Shields CL, Ellis J, Depotter P. Bilateral choroidal osteoma associated with bilateral total blindness. Retina. 1996; 16(5):445-7.
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Shields JA, Shields CL, Eagle RC, Lieb WE, Stern S. Malignant melanoma associated with melanocytoma of the optic disc. Ophthalmology. 1990 Feb; 97(2):225-30.
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Brown GC, Shields JA, Sanborn G, Augsburger JJ, Savino PJ, Schatz NJ. Radiation optic neuropathy. Ophthalmology. 1982 Dec; 89(12):1489-93.
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Martin WG, Brown GC, Parrish RK, Kimball R, Naidoff MA, Benson WE. Ocular toxoplasmosis and visual field defects. Am J Ophthalmol. 1980 Jul; 90(1):25-9.