Retinopathy aociated with Machado–Joeph dieae (pinocerebellar ataxia 3) with CAG trinucleotide repeat expanion

PURPOE: To report characteritic atrophic maculopathy in a patient with Machado–Joeph dieae (pinocerebellar ataxia 3) caued by trinucleotide repeat expanion of the relevant gene. METHOD: Cae report. REULT: A 64-year-old Japanee man had uffered from lurred peech and gait diturbance ince 57 year of age. Cerebellar ataxia, extenor plantar repone, and other neurological ign were compatible with feature of Machado–Joeph dieae. Magnetic reonance imaging howed atrophie of cerebellum and cerebral cortex. Family hitory uggeted an autoomal dominant inheritance of the dieae. The patient preented with gaze-evoked nytagmu and limitation of eye movement in all direction. Ophthalmocopy and fluorecein angiogram revealed ymmetric change in the poterior fundi, which conited of patchy atrophie at the level of the retinal pigment epithelium. cotopic electroretinogram howed no abnormalitie with normal ocillatory potential. Polymerae chain reaction analyi of the Machado–Joeph dieae gene identified a heterozygou trinucleotide (CAG) repeat expanion. CONCLUION: Thi cae illutrate a rare aociation of atrophic maculopathy and external ophthalmoplegia in Machado–Joeph dieae, contrated with the common occurrence of retinal degeneration in pinocerebellar ataxia 7. Dytrophic change in the retinal pigment epithelium have rarely been decribed but may be one of the characteritic complication of Machado–Joeph dieae.