Pelizaeus-Merzbacher Disease Associated with Retinopathy. One Case Report

Pelizaeus-Merzbacher disease is an X-linked recessive neurological disorder with nystagmus, ataxia, spasticity and developmental delay. It is linked to a diffuse hypomyelination of the central nervous system due to mutations in the PLP1 gene with abnormal expression of the proteolipid membrane protein PLP in the central nervous system. Progression of clinical signs is related to age of onset of the disease. Initially, an irregular pendular nystagmus is always present without affecting visual function. Fundus appearance remains normal. Cortical flash visual evoked potentials (flash-VEPs) are typical for hypomyelination. Nystagmus may disappear between the age of 2 to 5 years while optic atrophy later develops.