Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …

This article describes the main visual electrodiagnostic tests relevant to neuro-
ophthalmology practice, including the visual evoked potential (VEP), and the full-field …

Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with
phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic …

This study aims to describe the ophthalmic characteristics of autosomal dominant (AD)
WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with …

Advancements in ocular imaging have significantly broadened our comprehension of
mitochondrial retinopathies and optic neuropathies by examining the structural and …

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to
premature death. Clinical and genetic heterogeneity makes WFS diagnosis and …

The aim of this study is to contribute to a better description of the genotypic and phenotypic
spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant …

Aims/hypothesis Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in
childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene …

Background Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane
structural protein (wolframin), is essential for several biological processes, including proper …

Hereditary optic neuropathies (HONs) are a class of genetic disorders that may lead to
vision loss due to either acute or progressive injury to the optic nerve. Although HONs may …