Optic nerveOptic nerve and retinal involvement are a frequent finding 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 (OCTOptical Coherence Tomography (OCT)) findings in rare neurological syndromes for which OCTOptical Coherence Tomography (OCT) data are available. In Friedreich’s ataxiaFriedreich’s ataxia, which is an autosomal recessive disease, there is evidence of subclinical optic neuropathyOptic neuropathy. OCTOptical Coherence Tomography (OCT) studies describe a diffuse and progressive thinning of the retinal nerve fiber layerRetinal nerve fiber layer (RNFLRetinal Nerve Fibre Layer (RNFL)) thickness with a relative sparing of the papillo-macular bundle. In rare case also the presence of a Leber’s hereditary optic NeuropathyOptic neuropathy (LHON)-like presentation has been reported. DNA (cytosine-5)-methyltransferase 1 (DNMT1DNMT1) disease is an autosomal dominant multisystem disorder characterized by the association of narcolepsy, deafness, sensory neuropathy and optic atrophy. The presence of subclinical optic atrophy more evident in the temporal quadrant has been reported in both the autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) associated with mutations in exon 21 of the DNMT1DNMT1 gene and the hereditary sensory autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) associated with mutations in exon 20 of the DNMT1DNMT1 gene. Hereditary spastic paraplegias (HSP) are a heterogeneous group of inherited neurological disorders characterized by spastic paraparesis. RNFLRetinal Nerve Fibre Layer (RNFL) thinning and pigmentary retinopathy are frequent findings in these diseases. We here report ophthalmological findings of SPG7, SPG11 and SPG45-related spastic paraplegia. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASILCadasil) is an autosomal dominant disorder in which retinal vascular changes and neurodegenerationNeurodegeneration of the neuroretina are frequent findings. Moreover, OCTOptical Coherence Tomography (OCT)-angiography studies demonstrated in CADASILCadasil patients the presence of a reduced retinal vesselRetinal vessels density. Wolfram’s syndrome is rare genetic condition, typically characterized by the occurrence of diabetes and optic atrophy in childhood. OCTOptical Coherence Tomography (OCT) studies demonstrated the presence of a pattern of diffuse and severe optic atrophy, not strictly selective for the temporal fibers of the papillomacular bundle, at difference with mitochondrial optic neuropathiesOptic neuropathy, with a fast deterioration of visual function and structural OCTOptical Coherence Tomography (OCT) parameters since early age and with RGC axonal degeneration preceding cellular body atrophy by about a decade, at difference with Dominant Optica Atrophy in which a more stable visual function is evident with predominant early loss of GCL. Autosomal recessive spastic ataxia of Charlevoix-SaguenayAutosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS) is a hereditary spastic ataxia due to progressive degeneration of the cerebellum and spinal cord, characterized by retinal nerve fiber hypertrophy detected by OCTOptical Coherence Tomography (OCT). Spinocerebellar ataxiasSpinocerebellar ataxias (SCAs) are heterogeneous genetically determined disorders for which OCTOptical Coherence Tomography (OCT) studies available show variable findings ranging from isolated thinning of the temporal RNFLRetinal Nerve Fibre Layer (RNFL) to retinal photoreceptor abnormalities.