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 …

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

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 …

Abstract Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the
WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness …

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

(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in
Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably …

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 …

Sažetak Leberova hereditarna optička neuropatija (LHON) je mitohondrijsko
neurodegenerativno oboljenje koje se prezentuje kao bezbolni, akutni ili subakutni gubitak …

Wolfram syndrome (WS) is a rare childhood disease characterized by diabetes mellitus,
diabetes insipidus, blindness, deafness, neurodegeneration and eventually early death, due …

The endosomal sorting complex required for transport (ESCRT) machinery is essential for
membrane remodeling and autophagy and it comprises three multi-subunit complexes …