Pupillary Dysfunctionin an Atypical Case of Mitochondrial Myopathy With Tubular Aggregates

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Title Journal of Neuro-Ophthalmology, June 2010, Volume 30, Issue 2
ARK ark:/87278/s6k109bb
Setname ehsl_novel_jno
Date Created 2012-01-27
Date Modified 2012-01-27
ID 227078
Reference URL

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Title Pupillary Dysfunctionin an Atypical Case of Mitochondrial Myopathy With Tubular Aggregates
Creator Ali, Nadeem; Woodward, Catherin E; Sweeney, Mary; Phadke, Rahul; Holton, Janice L; Acheson, James; Plant, Gordon T; Bremner, Fion D
Affiliation Department of Neuro-Ophthalmology, National Hospital for Neurology and Neurosurgery
Subject Biopsy; Chronic Disease; DNA Mutational Analysis; DNA, Mitochondrial/analysis; DNA, Mitochondrial/genetics; Gene Deletion; Humans; Inclusion Bodies/pathology; Iris/pathology; Iris/physiopathology; Iris Diseases/etiology; Iris Diseases/pathology; Iris Diseases/physiopathology; Male; Microscopy, Electron, Transmission; Microtubules/pathology; Middle Aged; Mitochondria/genetics; Mitochondria/pathology; Mitochondrial Myopathies/complications; Mitochondrial Myopathies/pathology; Mitochondrial Myopathies/physiopathology; Muscle Fibers, Skeletal/pathology; Muscle Fibers, Skeletal/ultrastructure; Muscle, Skeletal/pathology; Muscle, Skeletal/physiopathology; Muscle, Smooth/pathology; Muscle, Smooth/physiopathology; Mutation/genetics; Pupil Disorders/etiology; Pupil Disorders/pathology; Pupil Disorders/physiopathology
Abstract A 62-year-old man presented with diplopia, ocular ductional deficits, and sluggish pupils. Pupillometry demonstrated large hyporeactive pupils with no evidence of damage to the sympathetic or parasympathetic innervation, indicating a myopathy of the iris musculature. A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy. However, ultrastructural examination of skeletal muscle fibers showed tubular aggregates (TAs), a finding not reported in mitochondrial cytopathy. The combination of pupillary abnormalities and TAs suggests that mitochondrial dysfunction may not explain the full extent of abnormalities in this case.
OCR Text Show
Publisher Lippincott, Williams & Wilkins
Date 2010-06
Type Text
Publication Type Journal Article
Setname ehsl_novel_jno
Date Created 2012-01-27
Date Modified 2012-09-11
ID 227062
Reference URL