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A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review
BackgroundLeber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of...
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Absence of PRCD Leads to Dysregulation in Lipid Homeostasis Resulting in Disorganization of Photoreceptor Outer Segment Structure
The outer segments of photoreceptors are specialized sensory cilia crucial for light detection. Any disruption that alters outer segment morphology...
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Deletion of myeloid HDAC3 promotes efferocytosis to ameliorate retinal ischemic injury
Ischemia-induced retinopathy is a hallmark finding of common visual disorders including diabetic retinopathy (DR) and central retinal artery and vein...
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Retinal Changes in Parkinson’s Disease: A Non-invasive Biomarker for Early Diagnosis
Parkinson’s disease (PD) is caused due to degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc) which leads to the...
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Minocycline reduces inflammatory response and cell death in a S100B retina degeneration model
BackgroundPrevious studies noted that intravitreal injection of S100B triggered a glaucoma-like degeneration of retina and optic nerve as well as...
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The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice
Diabetic retinopathy (DR) is considered a primarily microvascular complication of diabetes. Müller glia cells are at the centre of the retinal...
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The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy
Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical...
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Tau modulation through AAV9 therapy augments Akt/Erk survival signalling in glaucoma mitigating the retinal degenerative phenotype
The microtubule-associated protein Tau is a key player in various neurodegenerative conditions, including Alzheimer's disease (AD) and Tauopathies,...
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The Role of Microglia in Inherited Retinal Diseases
Inherited retinal diseases (IRDs) are a leading cause of irreversible visual loss in the developed world. The primary driver of pathology in IRDs is...
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Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
BackgroundsUnilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with...
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Retina Oculomics in Neurodegenerative Disease
Ophthalmic biomarkers have long played a critical role in diagnosing and managing ocular diseases. Oculomics has emerged as a field that utilizes...
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Long-term effects of human induced pluripotent stem cell-derived retinal cell transplantation in Pde6b knockout rats
Retinal degenerative disorders, including age-related macular degeneration and retinitis pigmentosa (RP), are characterized by the irreversible loss...
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Hydroxychloroquine Causes Early Inner Retinal Toxicity and Affects Autophagosome–Lysosomal Pathway and Sphingolipid Metabolism in the Retina
Hydroxychloroquine (HCQ) is an anti-malarial drug but also widely used to treat autoimmune diseases like arthritis and lupus. Although there have...
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Fundamentals of Electroretinogram and Analysis of Retinal Fundus Image
Our sensory organs make us more confident and dependable. Glaucoma which causes damage to the optic nerves is “the sneak thief of sight” as there are...
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Inhibition of TLR4/NF-κB pathway and endoplasmic reticulum stress by overexpressed S100A4 ameliorates retinal ischemia-reperfusion injury of mice
Retinal ischemia exists in various ischemic retinopathies including glaucoma, contributing to the death of retinal neurons. Calcium binding protein...
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Recording and Analysis of the Human Clinical Electroretinogram
The electroretinogram (ERG) represents the biopotential that is produced by the retina in response to a light stimulus. To date, it remains the best...
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Retinal Imaging and Functional Biomarkers of Huntington’s Disease
The retina shares a common embryological origin with the brain and both organs have numerous anatomical and functional commonalities. The retina is...
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Retinal Bioengineering
The retina is a small piece of the central nervous system responsible for the first steps in vision, so understanding how it works has great...
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Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive...
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Disruption of early visual processing in amyloid-positive healthy individuals and mild cognitive impairment
BackgroundAmyloid deposition is a primary predictor of Alzheimer’s disease (AD) and related neurodegenerative disorders. Retinal changes involving...
