Ocular Manifestations of Congenital/Inherited Diseases

Update item information
Identifier 92_01
Title Ocular Manifestations of Congenital/Inherited Diseases
Subject Bassen-Kornzweig Syndrome
Description This patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neuro-ophthalmologic examination, visual acuity was 20/200 in the right eye and 20/40 in the left eye. (The patient's acuity measurements have varied over the years, depending in part on his level of cooperation.) The pupils were sluggish bilaterally without an afferent defect. Visual fields were constricted, with bilateral central scotomas. Extraocular movements showed slow abducting saccades with adduction nystagmus. There were mild bilateral third nerve palsies greater on the right with bilateral aberrant lid regeneration. Ophthalmoscopy showed optic atrophy with large clumps of retinal pigment deposition and angioid streaks. The remainder of the neurologic examination demonstrated tongue atrophy, choreoathetoid movements, sensory neuropathy involving large and small fiber modalities, and corticospinal tract dysfunction. Laboratory data included an electroretinogram revealing decreased b-wave velocities in both eyes with a delay in the 30 hertz flicker stimulus. An EMG showed a chronic sensory neuropathy. MRI of the brain is normal. The patient has been a subject of a previous report (Cohen DA, Bosley TM, Savino PJ, et all: Primary aberrant regeneration of the oculomotor nerve: occurrence in a patient with abetalipoproteinemia. Arch Neurol 1985; 42:821-823). Pair with 92_02, 92_03, 92_04, 92_05, and 92_06.
Creator AAO/NANOS - American Academy of Ophthalmology / North American Neuro-Ophthalmology Society
Disease/Diagnosis Bassen-Kornweig Syndrome
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Type Image
Format image/jpeg
Relation is Part of Case 34, Part A
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Contributor Primary Steven Galetta, MD, NYU Langone Medical Center
References Cohen DA, Bosley TM, Savino, PJ, et al: Primary aberrant generation of the oculomotor nerve: Occurrence in a patient with abetalipoproteinemia. Arch Neurol 1985; 42:821-823
Source AAO/NANOS Clinical neuro-ophthalmology : image collection for ophthalmic practitioners. American Academy of Ophthalmology [electronic resource], [San Francisco, Calif.] : AAO, c1999.
ARK ark:/87278/s6351jx8
Setname ehsl_novel_aao_nanos
Date Created 2004-11-17
Date Modified 2014-01-09
ID 176997
Reference URL https://collections.lib.utah.edu/ark:/87278/s6351jx8