J Gamez1, D Montane, L Martorell, T Minoves, C Cervera. 1. Servicio de Neurologia, Hospital Gral. Vall d'Hebron, Passeig Vall d'Hebron, 119-125, 08035 Barcelona, Spain. 12784jgc@comb.es
Abstract
PURPOSE: To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. METHODS: Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy. RESULTS: The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. Intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found. CONCLUSIONS: In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. Optic atrophy should be considered a possible complication of myotonic dystrophy.
PURPOSE: To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. METHODS: Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy. RESULTS: The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. Intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found. CONCLUSIONS: In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. Optic atrophy should be considered a possible complication of myotonic dystrophy.