Optical coherence tomography (OCT) has become essential to evaluate axonal/neuronal
integrity, to assess disease progression in the afferent visual pathway and to predict visual …

Purpose To search for WFS1 mutations in patients with optic atrophy (OA) and assess visual
impairment. Design Retrospective molecular genetic and clinical study. Participants Patients …

Introduction Developmental abnormalities of the optic nerve (ON) and pediatric optic
neuropathies, such as glaucoma, are leading causes of childhood blindness. The recent …

The most frequent form of hereditary blindness, autosomal dominant optic atrophy (ADOA),
is caused by the mutation of the mitochondrial protein Opa1 and the ensuing degeneration …

Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic
Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure …

Purpose. To specify thickness values of various retinal layers on macular spectral domain
Optical Coherence Tomography (SDOCT) scans in patients with autosomal dominant optic …

Congenital and hereditary optic nerve anomalies represent a significant cause of visual
dysfunction. While some optic nerve abnormalities affect the visual system alone, others may …

Purpose To determine the molecular genetic cause in previously unreported probands with
optic atrophy from the United Kingdom, Czech Republic and Canada. Methods OPA 1 …

Hereditary, metabolic and toxic optic neuropathies cause bilateral, central vision loss and
therefore can result in severe impairment in visual function. Accurate, early diagnosis is …

Neuro-ophthalmology is a clinical discipline, which relies upon a thorough history and
comprehensive examination to facilitate diagnostic localization. Advances in magnetic …