Retinopathy associated with Machado-Joseph disease (spinocerebellar ataxia3) with CAG trinucleotide repeat expansion

PURPOSE: To report characteristic atrophic maculopathy in a patient with Ma chado-Joseph disease (spinocerebellar ataxia 3) caused by trinucleotide rep eat expansion of the relevant gene. METHODS: Case report. RESULTS: A 64-year-old Japanese man had suffered from slurred speech and ga it disturbance since 57 years of age. Cerebellar ataxia, extensor plantar r esponse, and other neurological signs were compatible with features of Mach ado-Joseph disease. Magnetic resonance imaging showed atrophies of cerebell um and cerebral cortex. Family history suggested an autosomal dominant inhe ritance of the disease. The patient presented with gaze evoked nystagmus an d limitations of eye movement in all directions. Ophthalmoscopy and fluores cein angiogram revealed symmetric changes in the posterior fundi, which con sisted of patchy atrophies at the level of the retinal pigment epithelium. Scotopic electroretinogram showed no abnormalities with normal oscillatory potentials. Polymerase chain reaction analysis of the Machado-Joseph diseas e gene identified a heterozygous trinucleotide (CAG) repeat expansion. CONCLUSION: This case illustrates a rare association of atrophic maculopath y and external ophthalmoplegia in Machado-Joseph disease, contrasted with t he common occurrence of retinal degeneration in spinocerebellar ataxia 7. D ystrophic changes in the retinal pigment epithelium have rarely been descri bed but may be one of the characteristic complications of Machado-Joseph di sease. (Am J Ophthalmol 2001;131:808-810, (C) 2001 by Elsevier Science Inc. All rights reserved.).