Votruba Marcela

Sun Shanshan, Erchova Irina, Sengpiel Frank, Votruba Marcela

Opa1 deficiency in RGCs causes mitochondrial fragmentation, impaired energy production, and increased mitochondrial movement. This reveals early disease mechanisms in optic atrophy, preceding clinical symptoms.

Morny Enyam Komla A, Patel Kishan, Votruba Marcela, Binns Alison M, Margrain Tom H

This study found PhNR amplitude nonlinearly relates to RGC distribution in healthy eyes, with eccentric RGCs contributing more. This suggests PhNR reflects more than just RGC numbers, impacting glaucoma monitoring.

Kousal Bohdan, Kolarova Hana, Meliska Martin, Bydzovsky Jan, Diblik Pavel, Kulhanek Jan et al.

OCT-A in LHON patients revealed significant peripapillary microvascular abnormalities, suggesting microangiopathy contributes to vision loss. This highlights a potential therapeutic target.

Majander Anna, João Catarina, Rider Andrew T, Henning G Bruce, Votruba Marcela, Moore Anthony T et al.

This study found that OPA1-related optic atrophy causes loss in all retinal ganglion cell types, with S-cone related vision worsening significantly with age, potentially serving as a disease progression biomarker.

Morny Enyam Komla A, Margrain Tom H, Binns Alison M, Votruba Marcela

This study found that autosomal dominant optic atrophy (ADOA) similarly reduces both ON and OFF retinal ganglion cell (RGC) function, suggesting both pathways are equally affected.

Powell Kate A, Davies Jennifer R, Taylor Elaine, Wride Michael A, Votruba Marcela

This study found mutant Opa3 protein retains mitochondrial localization but disrupts retinal mitochondrial morphology in a mouse model, suggesting its role in mitochondrial health and potential relevance to lens aging.

Yu-Wai-Man Patrick, Davies Vanessa J, Piechota Malgorzata J, Cree Lynsey M, Votruba Marcela, Chinnery Patrick F

Studying a mouse model of dominant optic atrophy, researchers found secondary mitochondrial DNA defects do not cause optic nerve dysfunction, suggesting direct OPA1 mutation impact, not mtDNA issues, drives this form of vision loss.

White Kathryn E, Davies Vanessa J, Hogan Vanessa E, Piechota Malgorzata J, Nichols Philip P, Turnbull Douglas M et al.

OPA1 deficiency in mice causes increased RGC autophagy and optic nerve degeneration, suggesting autophagy contributes to RGC loss in dominant optic atrophy.

Aijaz Saima, Erskine Lynda, Jeffery Glen, Bhattacharya Shomi S, Votruba Marcela

OPA1, linked to optic atrophy, was found in multiple retinal layers and the optic nerve, not just ganglion cells. This suggests a broader role beyond primary ganglion cell degeneration.