Mitochondrial disease in adults: recent advances and future promise

YS Ng, LA Bindoff, GS Gorman, T Klopstock… - The Lancet …, 2021 - thelancet.com
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Optic neuropathies: the tip of the neurodegeneration iceberg

V Carelli, C La Morgia… - Human molecular …, 2017 - academic.oup.com
The optic nerve and the cells that give origin to its 1.2 million axons, the retinal ganglion
cells (RGCs), are particularly vulnerable to neurodegeneration related to mitochondrial …

[HTML][HTML] Leber hereditary optic neuropathy: bridging the translational gap

N Jurkute, P Yu-Wai-Man - Current opinion in ophthalmology, 2017 - journals.lww.com
LHON is phenotypically more heterogeneous than previously considered and a complex
interplay of genetic, environmental and hormonal factors modulates the risk of a LHON …

Topographic macular microvascular changes and correlation with visual loss in chronic leber hereditary optic neuropathy

E Borrelli, S Balasubramanian, G Triolo… - American Journal of …, 2018 - Elsevier
Purpose To study the macular microvascular networks in patients affected by chronic Leber
hereditary optic neuropathy (LHON) using optical coherence tomography angiography …

Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker

N Balducci, ML Cascavilla, A Ciardella… - Clinical & …, 2018 - Wiley Online Library
Importance The contribution of the microvascular supply to the pathogenesis of Leber's
hereditary optic neuropathy (LHON) is poorly understood. Background We aimed at …

Treatment strategies for Leber hereditary optic neuropathy

N Jurkute, J Harvey, P Yu-Wai-Man - Current opinion in neurology, 2019 - journals.lww.com
Treatment strategies for Leber hereditary optic neuropathy : Current Opinion in Neurology
Treatment strategies for Leber hereditary optic neuropathy : Current Opinion in Neurology Log …

Characterisation of thickness changes in the peripapillary retinal nerve fibre layer in patients with Leber's hereditary optic neuropathy

D Wang, HL Liu, YY Du, J Yuan, X Li, Z Tian… - British Journal of …, 2021 - bjo.bmj.com
Background Limited studies have identified the changes in peripapillary retinal nerve fibre
layer (pRNFL) thickness in patients with chronic Leber's hereditary optic neuropathy (LHON) …

Recent advances and future directions on the use of optical coherence tomography in neuro-ophthalmology

C Lo, LN Vuong, JA Micieli - Taiwan Journal of Ophthalmology, 2021 - journals.lww.com
Optical coherence tomography (OCT) is a noninvasive imaging technique used to
qualitatively and quantitatively analyze various layers of the retina. OCT of the retinal nerve …

[HTML][HTML] Can deep learning revolutionize clinical understanding and diagnosis of optic neuropathy?

MD Subramaniam, A Kumar, RB Chirayath… - Artificial Intelligence in …, 2021 - Elsevier
Artificial intelligence (AI) based on deep learning (DL) has sparked tremendous global
interest in recent years. Deep Learning has been widely adopted in speech and image …

Mitochondrial retinopathies and optic neuropathies: the impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management

E Borrelli, F Bandello, CJF Boon, V Carelli… - Progress in Retinal and …, 2024 - Elsevier
Advancements in ocular imaging have significantly broadened our comprehension of
mitochondrial retinopathies and optic neuropathies by examining the structural and …