Gifts make good
The generous support of the donors to IFOND
continues to allow important progress in clinical and basic science investigations of Leber's Hereditary Optic Neuropathy
(LHON). From 2001 we had sponsored regular annual field trips to rural Brazil in order to study the largest LHON pedigree in
the world. These investigations have been fully described in previous reports.
They have also led to numerous peer-reviewed publications and Association for Research in Vision
and Ophthalmology (ARVO) annual symposium presentations. These investigations and publications
have changed the face of LHON as studied, taught and clinically treated. This is an outstanding achievement for the researchers who punch well above their
weight on shoe string budgets and volunteer support. Much more needs to be done.
Active IFOND projects
The projects listed below are currently approved and are in need of your support! Please help.
Impact and Significance:
The goal of this study is to determine whether this virtual-reality based Multi-Luminance Mobility Test is practical, reliable, and more
meaningful than standard vision tests. If successful, this approach could improve how vision loss is
measured in LHON and provide a portable method for assessing functional outcomes in a measurable
way which has already been accepted by the FDA as a clinical outcome metric.
Rustum Karanjia, PhD, MD -researcher
Assistant Professor, Ophthalmology, Ottawa Eye Institute and VP Research, Department of Ophthalmology
University of Ottawa, Ottawa, Ontario, Canada
Visiting Researcher, Neuro-Ophthalmology
Doheny Eye Institute, UCLA, Los Angeles, California, United States of America
Impact and Significance:
LHON is a devastating inherited optic neuropathy with limited therapeutic options and highly
variable clinical outcomes. While mitochondrial dysfunction in retinal ganglion cells has been
extensively studied, the contribution of glial pathology to disease progression and recovery
remains largely unexplored. This represents a critical gap in our understanding of LHON
biology.
This project will, for the first time, directly interrogate astrocyte immunometabolic dysfunction
in LHON using patient-derived stem cell models stratified by visual recovery. By identifying
distinct inflammatory and metabolic phenotypes associated with recovery versus
non-recovery, this work has the potential to redefine LHON as a disorder of impaired
neuron–glia homeostasis rather than isolated neuronal failure.
The anticipated outcomes of this study are therefore to:
Establish astrocytes as active contributors to LHON pathogenicity.
Provide mechanistic insight into why some patients retain the capacity for visual
recovery.
Identify candidate inflammatory or metabolic pathways that may be amenable to
therapeutic modulation.
In the longer term, these findings could support the development of adjunctive treatment
strategies targeting glial immunometabolism, either alongside existing therapies such as
idebenone or as standalone interventions. Moreover, the results will generate strong
preliminary data to underpin future mechanistic grant applications and may inform
biomarker-led patient stratification approaches in LHON.
In summary:
The proposed work if successful would support a larger mechanistic grant.
Recovery versus non-recovery insights could guide patient stratification in future
therapeutic interventions.
Principal Investigator: Marcela Votruba, BA BM BCh FRCOphth PhD FLSW
Professor of Ophthalmology
School of Optometry & Vision Sciences, Cardiff University
Consultant Ophthalmologist, University Hospital Wales
Post-doctoral Research Associate (PDRA): Wyn Firth PhD
School of Optometry & Vision Sciences, Cardiff University
Impact and Significance:
Extensive research has established that the inflammatory response is a critical factor in most
neurodegenerative disorders. In contrast, reports on the involvement of inflammation in
the pathophysiology of LHON are limited. Patients with primary mitochondrial diseases
(PMDs) show neuro-inflammatory signatures besides neurodegeneration.
Study Objectives:
To characterize the cytokine profiles in LHON optic nerve head samples and identify the
key pro-inflammatory mediators involved in the pathogenesis of optic nerve degeneration.
To explore the potential of existing cytokine inhibitors, such as TNF-α and IL-6 blockers, as
repurposed therapeutic strategies to mitigate the pro-inflammatory response and protect the
optic nerve in LHON.
Maryam Golmohammadi, MD – researcher
Alfredo A. Sadun, MD, PhD – Supervisor
Doheny Eye Institute, Pasadena, California
Here find links to published peer reviewed papers acknowledging IFOND's help. This research helped stimulate a cascade of broad research on mitochondrial and optic nerve disease.
Efficient funding
IFOND is an extremely lean, all volunteer 501(c)(3) tax status
registered nonprofit. We have no salaried associates. Our process
minimizes costs and maximizes funding for researchers' direct, non administrative expenses. All donations are
tax deductible in the United States of America.
Our recent tax returns are searchable here e.g. latest IRS website listed year 2023 here. Tax Year 2022 Form 990EZ and Tax Year 2022 IRS Filing Acceptance. Also see
here. Our strong
scientific board includes
many of the prominent world leading published researchers in optic neuropathies who plan, guide and do research in optic nerve disease.
If this big bang for your buck, open disclosure model appeals to you, please donate. If you are a researcher in optic neuropathy, we welcome your funding application.
Update history
Last edited: 8 September 2026
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The information contained on this website should not be considered medical guidance or professional advice. IFOND is not responsible for errors or omissions in information provided on this site or actions resulting from its use. IFOND does not publish all information from all available sources on optic nerve disease. IFOND is not responsible for the validity of the studies or reviews nor is it an advocate of studies or reviews mentioned on or linked from the IFOND web site. IFOND does not endorse or recommend participation in any particular clinical trial or treatment protocol which may be mentioned on this site. Direct any questions concerning your personal health to your appropriate health care professional.