Bilateral optic nerve atrophy in myotonic dytrophy

PURPOE: To document a cae of bilateral optic atrophy in a patient with myotonic dytrophy. Myotonic dytrophy i an autoomal dominant diorder, genetically reulting from an expanion of an untable CTG repeat in the 3′-untranlated region of a protein kinae gene (DMPK) on chromoome 19q13.3. METHOD: Cae report, clinical examination, fundu photograph, viual field, viual evoked potential, electroretinogram, and genetic tudie of a 56-year-old woman clinically diagnoed with myotonic dytrophy. REULT: The patient experienced decreaed viion coniting of light perception with the right eye and 20/25 with the left. Fundu examination howed bilateral pallor of the optic dik. Intraocular preure wa normal. Viual field teting, viual evoked potential, and electroretinogram were abnormal. A pathologic CTG expanion in the myotonic dytrophy gene wa found. CONCLUION: In a patient with myotonic dytrophy, confirmed with genetic molecular diagnoi, bilateral optic atrophy wa preent. Optic atrophy hould be conidered a poible complication of myotonic dytrophy.