Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management
NJ Newman, P Yu-Wai-Man, V Biousse… - The Lancet …, 2023 - thelancet.com
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 …
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
A Rocatcher, V Desquiret-Dumas, M Charif, M Ferré… - Brain, 2023 - academic.oup.com
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells
whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our …
whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our …
Hereditary optic neuropathies: from the mitochondria to the optic nerve
NJ Newman - American journal of ophthalmology, 2005 - Elsevier
PURPOSE: To review our current knowledge of inherited optic neuropathies. DESIGN:
Perspective. METHODS: Literature review. RESULTS: The hereditary optic neuropathies …
Perspective. METHODS: Literature review. RESULTS: The hereditary optic neuropathies …
Treatment of hereditary optic neuropathies
NJ Newman - Nature Reviews Neurology, 2012 - nature.com
The hereditary optic neuropathies are inherited disorders in which optic nerve dysfunction is
a prominent feature in the phenotypic expression of disease. Optic neuropathy may be …
a prominent feature in the phenotypic expression of disease. Optic neuropathy may be …
[HTML][HTML] Molecular genetic basis of primary inherited optic neuropathies
M Votruba - Eye, 2004 - nature.com
Results Inherited optic neuropathies are a genetically diverse group of disorders that
present with reduced visual acuity and the clinical appearance of optic atrophy. The …
present with reduced visual acuity and the clinical appearance of optic atrophy. The …
[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies
P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …
the two most common inherited optic neuropathies in the general population. Both disorders …
Genetically determined optic neuropathies
D Milea, P Amati-Bonneau, P Reynier… - Current opinion in …, 2010 - journals.lww.com
Genetically determined optic neuropathies : Current Opinion in Neurology Genetically
determined optic neuropathies : Current Opinion in Neurology Log in or Register Subscribe to …
determined optic neuropathies : Current Opinion in Neurology Log in or Register Subscribe to …
Inherited mitochondrial optic neuropathies
P Yu-Wai-Man, PG Griffiths, G Hudson… - Journal of medical …, 2009 - jmg.bmj.com
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies and they result in significant visual …
the two most common inherited optic neuropathies and they result in significant visual …
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be
caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table …
caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table …
[HTML][HTML] Medical management of hereditary optic neuropathies
C La Morgia, M Carbonelli, P Barboni… - Frontiers in …, 2014 - frontiersin.org
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are
mitochondrial hereditary optic neuropathies, ie, the maternally inherited Leber's hereditary …
mitochondrial hereditary optic neuropathies, ie, the maternally inherited Leber's hereditary …