Friedreich’s ataxia and more: Optical coherence tomography findings in rare neurological syndromes

Abstract

Optic nerve and retinal involvement are a frequent fi nding in many neurodegenerative disorders. Optic atrophy can be severe and diffuse or sectorial and can be associated with visual complaints and reduction of visual acuity. We here report the main optical coherence tomography (OCT) fi ndings in rare neurological syndromes for which OCT data are available. In Friedreich’s ataxia, which is an autosomal recessive disease, there is evidence of subclinical optic neuropathy. OCT studies describe a diffuse reduction of the retinal nerve fi ber layer (RNFL) thickness without a specifi c and preferential involvement of the papillo- macular bundle. Jansky-Bielschowsky disease is a late infantile neuronal ceroid lipofuscinosis characterized by both retinal and optic nerve atrophy. Only one OCT study is available describing retinal abnormalities of various degrees. DNA (cytosine-5)-methyltransferase 1 (DNMT1) disease is an autosomal dominant multisystem disorder characterized by the association of narcolepsy, deafness, sensory neuropathy and optic atrophy. The only OCT study available from our group describes the presence of subclinical optic atrophy more evident in the temporal quadrant. Hereditary spastic paraplegia due to SPG7 mutation is an autosomal recessive neurodegenerative disorder characterized by spastic paraparesis. RNFL thinning is a frequent and consistent fi nding in this disease. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant disorder in which retinal vascular changes and neurodegeneration of the neuroretina are frequent fi ndings.