Congenital anomalies of the optic nerve in one family.

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Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology; Neurosurgery; Family & Preventive Medicine; Neurology
Creator Digre, Kathleen B.; Mamalis, Nick; White, George L. Jr.
Other Author Mortenson, Steven
Title Congenital anomalies of the optic nerve in one family.
Date 1992-04-24
Description We present three cases of congenital optic disc anomalies in one family who underwent an extensive diagnostic workup to exclude any intracranial pathology. One patient had elevated optic nerve heads and was hospitalized for multiple diagnostic tests including a lumbar puncture and magnetic resonance imaging scan. This patient had a sister with a previous history of having undergone head and orbital computed tomography to evaluate her symptoms of headaches with anomalous optic nerve heads. The third patient was the father of the other two patients who had previously undergone an extensive evaluation for elevated optic nerve heads and was treated for presumed pseudotumor cerebri with fenestration of the optic nerve sheath. These cases underscore the importance of a detailed family history and examination of family members to exclude congenital abnormalities of the optic nerve head before beginning an extensive workup.
Type Text
Publisher American Society Of Contemporary Ophthalmology
Volume 24
Issue 4
First Page 126
Last Page 131
Subject Optic Nerve; Congenital Anomalies
Subject MESH Fluorescein Angiography; Fundus Oculi; Optic Disk; Papilledema; Visual Acuity
Language eng
Bibliographic Citation Mamalis N, Mortenson S, Digre KB, White GL Jr. Congenital anomalies of the optic nerve in one family. Ann Ophthalmol. 1992 Apr;24(4):126-31. Retrieved on April 13,2007 from
Rights Management Copyright © American Society of Contemporary Ophthalmology, Annals of Ophthalmology, 24, 126-131, 1992
Format Medium application/pdf
Identifier ir-main,930
ARK ark:/87278/s6x6457p
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 704151
Reference URL
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