Guest Editors:
Associate Professor Pete Williams, PhD, Karolinska Institutet, Sweden
Professor Maya Koronyo-Hamaoui, PhD, Cedars-Sinai Medical Center, United States of America
Professor Joanne Matsubara, PhD, The University of British Columbia, Canada
Acta Neuropathologica Communications is calling for submissions to our new Collection on "Neuropathology and Neurodegeneration in the Retina".
Image credit: James Tribble, Pete Williams, Karolinska Institutet
Acute ocular hypertension (AOH), a major cause of progressive irreversible vision loss, showed significant retinal ganglion cell (RGC) degeneration as well as selective RGC vulnerability upon functional tests,...
The rd2 mouse model, characterized by a mutation in the Prph2 gene, exhibits abnormal development of photoreceptor outer segments, resulting in progressive retinal degeneration. While the correlation between poly...
Pathological tau isoforms, including hyperphosphorylated tau at serine 396 (pS396-tau) and tau oligomers (Oligo-tau), are elevated in the retinas of patients with mild cognitive impairment (MCI) due to Alzheim...
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA...
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the use of gene ed...
Parkinson’s disease (PD) is a neurodegenerative disorder primarily characterized by motor symptoms, with emerging evidence suggesting retinal pathology, particularly in the ganglion cell-inner plexiform layer ...
The generation of retinal models from human induced pluripotent stem cells holds significant potential for advancing our understanding of retinal development, neurodegeneration, and the in vitro modeling of ne...
Neurodegeneration in glaucoma patients is clinically identified through longitudinal assessment of structure–function changes, including intraocular pressure, cup-to-disc ratios from fundus images, and optical...
Mammalian central nervous system (CNS) axons cannot spontaneously regenerate after injury, creating an unmet need to identify molecular regulators to promote axon regeneration and reduce the lasting impact of ...
Alzheimer’s Disease (AD) is a debilitating neurodegenerative disease that affects 47.5 million people worldwide. AD is characterised by the formation of plaques containing extracellular amyloid-β (Aβ) and neur...
Pathobiology of the intact human retina has been challenging to study due to its relative inaccessibility and limited sample availability. Thus, there is a great need for new translational models that can main...
The ability to derive retinal ganglion cells (RGCs) from human pluripotent stem cells (hPSCs) has led to numerous advances in the field of retinal research, with great potential for the use of hPSC-derived RGC...
Glaucoma is a leading cause of blindness, affecting retinal ganglion cells (RGCs) and their axons. By 2040, it is likely to affect 110 million people. Neuroinflammation, specifically through the release of pro...
Motor neuron loss is well recognized in amyotrophic lateral sclerosis (ALS), but research on retinal ganglion cells (RGCs) is limited. Ocular symptoms are generally not considered classic ALS symptoms, althoug...
Wolfram syndrome (WS) is a rare childhood disease characterized by diabetes mellitus, diabetes insipidus, blindness, deafness, neurodegeneration and eventually early death, due to autosomal recessive mutations...
A compromised capacity to maintain NAD pools is recognized as a key underlying pathophysiological feature of neurodegenerative diseases. NAD acts as a substrate in major cell functions including mitochondrial ...
Optical coherence tomography (OCT) is a non-invasive technique to measure retinal layer thickness, providing insights into retinal ganglion cell integrity. Studies have shown reduced retinal nerve fibre layer ...
The relationship between amyloidosis and vasculature in cognitive impairment and Alzheimer’s disease (AD) pathogenesis is increasingly acknowledged. We conducted a quantitative and topographic assessment of re...
The microtubule-associated protein Tau is a key player in various neurodegenerative conditions, including Alzheimer's disease (AD) and Tauopathies, where its hyperphosphorylation disrupts neuronal microtubular...
Here, we test whether early visual and OCT rod energy-linked biomarkers indicating pathophysiology in nicotinamide nucleotide transhydrogenase (Nnt)-null 5xFAD mice also occur in Nnt-intact 5xFAD mice and whether...
Neurons pose a particular challenge to degradative processes like autophagy due to their long and thin processes. Autophagic vesicles (AVs) are formed at the tip of the axon and transported back to the soma. T...
Neurodegenerative diseases have common underlying pathological mechanisms including progressive neuronal dysfunction, axonal and dendritic retraction, and mitochondrial dysfunction resulting in neuronal death....
Activated microglia play an important role in driving photoreceptor degeneration-associated neuroinflammation in the retina. Controlling pro-inflammatory activation of microglia holds promise for mitigating th...
The progressive and irreversible degeneration of retinal ganglion cells (RGCs) and their axons is the major characteristic of glaucoma, a leading cause of irreversible blindness worldwide. Nicotinamide adenine...
Glaucoma leads to vision loss due to retinal ganglion cell death. Astrocyte reactivity contributes to neurodegeneration. Our recent study found that lipoxin B4 (LXB4), produced by retinal astrocytes, has direct n...
Microglia-mediated neuroinflammatory responses are recognized as a predominant factor during high intraocular pressure (IOP)-induced retinal and optic nerve injury along with potential therapeutic targets for ...
Leber’s hereditary optic neuropathy (LHON) is driven by mtDNA mutations affecting Complex I presenting as progressive retinal ganglion cell dysfunction usually in the absence of extra-ophthalmic symptoms. Ther...
Glaucoma is one of the leading causes of irreversible blindness worldwide and vision loss in the disease results from the deterioration of retinal ganglion cells (RGC) and their axons. Metabolic dysfunction of...
Excitotoxicity from the impairment of glutamate uptake constitutes an important mechanism in neurodegenerative diseases such as Alzheimer’s, multiple sclerosis, and Parkinson's disease. Within the eye, excitot...
Glaucoma, the second leading cause of irreversible blindness worldwide, is associated with age and sensitivity to intraocular pressure (IOP). We have shown that elevated IOP causes an early increase in levels ...
Astrocytes are a major category of glial support cell in the central nervous system and play a variety of essential roles in both health and disease. As our understanding of the diverse functions of these cell...
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease associated with repetitive head trauma. Brain pathology in CTE is characterized by neuronal loss, gliosis, and a distinctive pattern of neu...
Retinal ganglion cells are highly metabolically active requiring strictly regulated metabolism and functional mitochondria to keep ATP levels in physiological range. Imbalances in metabolism and mitochondrial ...
Neurodegenerative disease accounts for a large and increasing health and economic burden worldwide. With an increasingly aged population this burden is set to increase. Ocular neurodegenerative diseases make up a large proportion of neurodegenerative diseases (e.g. glaucoma is the leading cause of irreversible blindness affecting >80 million people and diabetic retinopathy is a common complication of diabetes).
Given its ease of imaging and accessibility, the retina is an accessible component of the central nervous system and its role in neurodegenerative diseases is being increasingly recognized. Early retinal phenotypes have been demonstrated in human patients and animal models of Alzheimer’s disease, Parkinson’s disease, and Huntington’s disease. In addition to understanding disease pathology and mechanisms, these phenotypes can also be utilized to identify biomarkers of disease and help stage brain pathology.
This Collection will highlight basic, translational, and clinical studies that address current research, problems, and knowledge gaps in retinal neurodegenerations in topics that include, but are not limited to:
- Retinal degenerations (e.g. retinitis pigmentosa, Stargardt’s disease)
- Optic neuropathies (e.g. glaucoma, Leber’s hereditary optic neuropathy, autosomal dominant optic atrophy)
- Retinal complications and neurodegenerations from systemic disease (e.g. diabetic retinopathy)
- Retinal phenotypes in neurodegenerative disease (e.g. Alzheimer’s disease, Parkinson’s disease)
Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via SNAPP. During the submission process you will be asked whether you are submitting to a Collection, please select "Neuropathology and Neurodegeneration in the Retina" from the dropdown menu.
Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.
The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.
