| 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 |
| 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. |
| 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 Older people; 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 |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
227062 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6k109bb/227062 |
