Ophthalmological Features of Machado-Joseph Disease

Machado-Joseph disease (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and progressive neurodegenerative disorder, as well as the most frequently inherited spinocerebellar ataxia. It has extensive polymorphic features, described through a spectrum of neurological, and especially, ophthalmological manifestations. Besides the deterioration of the oculomotor systems, degeneration predominantly involves the cerebellar, pyramidal, extra-pyramidal, and peripheral motor systems. Few patients express Parkinsonian features as well. Through two separate cases, we present the major differences seen in the two patients, but also display their underlying similarities in the context of MJD; specifically, the ophthalmological features. The shared features include nystagmus in the horizontal direction, orbicularis oculi contractions, and bilateral esotropia. The findings indicate the importance of the inherent ophthalmological features expressed in MJD.