Over the past decade, ocular imaging strategies have greatly advanced the diagnosis and
follow-up of patients with optic neuropathies. Developments in optic nerve imaging have …

Optical coherence tomography is a non-invasive, cost-efficient technique that provides high-
resolution in vivo imaging of retinal tissue. The peripapillary retinal nerve fibre layer and …

Preclinical Alzheimer's disease (AD) includes cognitively healthy subjects with at least one
positive biomarker: reduction in cerebrospinal fluid Aβ42 or visualization of cerebral …

Introduction Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease
characterized by the progressive loss of motor neuron function. Although ophthalmic deficits …

Ocular abnormalities occur frequently in Friedreich's ataxia (FRDA), although visual
symptoms are not always reported. We evaluated a cohort of patients with FRDA to …

Introduction Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by
deficiency of frataxin, an essential mitochondrial protein involved in iron sulfur cluster …

Background Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA).
Previous studies have examined varying aspects of the anterior and posterior visual …

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe
autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous …

Introduction Alzheimer's disease (AD) is the most common form of dementia affecting the
central nervous system, and alteration of several visual structures has been reported …

The identification of efficient markers of disease progression and response to possibly
effective treatments is a key priority for slowly progressive, rare and neurodegenerative …