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M.H. Colyer, K.S. Bower, P. Subramanian, J. Pasternak, T. Ward; Mitochondrial Myopathy Presenting With Posterior Keratopathy And Segmental Corneal Edema . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4968.
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To report a case of progressive segmental corneal edema associated with clinical, histopathologic, and biochemical features of Chronic Progressive External Ophthalmoplegia (CPEO)
The authors describe the clinical, molecular, genetic, and pathologic findings in a 38 yo female patient who developed progressive visual loss and eyelid ptosis over a period of years. Clinical examination initally showed decreased visual acuity while ophthalmologic examination revealed progressive segmental corneal edema without retinal pathology. The patient developed ptosis and progressive ocular immobility over the course of four years. Cardiologic and neurologic examinations were unremarkable. Penetrating keratoplasty was performed and muscle biopsy was obtained for histologic, biochemical, and nuclear analysis.
Corneal biopsy revealed corneal edema with retrocorneal membrane and pigment phagocytosis by endothelial cells. Muscle biopsy revealed myopathic changes with non–specific mitochondrial abnormalities. Biochemical analysis of the muscle biopsy revealed elevated citrate synthase, a marker of increased mitochondrial synthesis.
This is a unique presentation of a mitochondrial myopathy, as the patient’s late presentation, primarily with corneal edema suggest that a broader spectrum of mitochondrial myopthies related to ophthalmoplegia and eyelid ptosis exist beyond Kearns–Sayre Syndrome and Progressive External Ophthalmoplegia.
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