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Signal Transduction and Targeted Therapy Sep 2023The endoplasmic reticulum (ER) functions as a quality-control organelle for protein homeostasis, or "proteostasis". The protein quality control systems involve... (Review)
Review
The endoplasmic reticulum (ER) functions as a quality-control organelle for protein homeostasis, or "proteostasis". The protein quality control systems involve ER-associated degradation, protein chaperons, and autophagy. ER stress is activated when proteostasis is broken with an accumulation of misfolded and unfolded proteins in the ER. ER stress activates an adaptive unfolded protein response to restore proteostasis by initiating protein kinase R-like ER kinase, activating transcription factor 6, and inositol requiring enzyme 1. ER stress is multifaceted, and acts on aspects at the epigenetic level, including transcription and protein processing. Accumulated data indicates its key role in protein homeostasis and other diverse functions involved in various ocular diseases, such as glaucoma, diabetic retinopathy, age-related macular degeneration, retinitis pigmentosa, achromatopsia, cataracts, ocular tumors, ocular surface diseases, and myopia. This review summarizes the molecular mechanisms underlying the aforementioned ocular diseases from an ER stress perspective. Drugs (chemicals, neurotrophic factors, and nanoparticles), gene therapy, and stem cell therapy are used to treat ocular diseases by alleviating ER stress. We delineate the advancement of therapy targeting ER stress to provide new treatment strategies for ocular diseases.
Topics: Humans; Endoplasmic Reticulum Stress; Unfolded Protein Response; Color Vision Defects; Autophagy; Epigenomics
PubMed: 37709773
DOI: 10.1038/s41392-023-01570-w -
Ophthalmic Plastic and Reconstructive... Dec 2023Dysthyroid optic neuropathy (DON) is a sight-threatening complication of thyroid eye disease (TED). This review provides an overview of the epidemiology, pathogenesis,... (Review)
Review
PURPOSE
Dysthyroid optic neuropathy (DON) is a sight-threatening complication of thyroid eye disease (TED). This review provides an overview of the epidemiology, pathogenesis, diagnosis, and current therapeutic options for DON.
METHODS
A literature review.
RESULTS
DON occurs in about 5% to 8% of TED patients. Compression of the optic nerve at the apex is the most widely accepted pathogenic mechanism. Excessive stretching of the nerve might play a role in a minority of cases. Increasing age, male gender, smoking, and diabetes mellitus have been identified as risk factors. Diagnosis of DON is based on a combination of ≥2 clinical findings, including decreased visual acuity, decreased color vision, relative afferent pupillary defect, visual field defects, or optic disc edema. Orbital imaging supports the diagnosis by confirming apical crowding or optic nerve stretching. DON should be promptly treated with high-dose intravenous glucocorticoids. Decompression surgery should be performed, but the response is incomplete. Radiotherapy might play a role in the prevention of DON development and may delay or avoid the need for surgery. The advent of new biologic-targeted agents provides an exciting new array of therapeutic options, though more research is needed to clarify the role of these medications in the management of DON.
CONCLUSIONS
Even with appropriate management, DON can result in irreversible loss of visual function. Prompt diagnosis and management are pivotal and require a multidisciplinary approach. Methylprednisolone infusions still represent first-line therapy, and surgical decompression is performed in cases of treatment failure. Biologics may play a role in the future.
Topics: Humans; Male; Glucocorticoids; Graves Ophthalmopathy; Methylprednisolone; Optic Nerve; Papilledema
PubMed: 38054987
DOI: 10.1097/IOP.0000000000002555 -
Journal of Medical Ethics Nov 2023
Topics: Humans; Color; Color Vision Defects; Medicine
PubMed: 37871944
DOI: 10.1136/jme-2023-109634 -
Wilderness & Environmental Medicine Dec 2023This Lessons from History article uses science, aviation, medicine, and mountaineering sources to describe some of the effects of hypoxia, illumination, and other...
This Lessons from History article uses science, aviation, medicine, and mountaineering sources to describe some of the effects of hypoxia, illumination, and other environmental conditions on the eye, the central nervous system, and light and color perception. The historical perspective is augmented by an analysis of an informal observation of the altered perception of red color on a deck of playing cards while climbing Mera Peak in the Himalaya. The appearance of a grayer red color on the cards was initially attributed to the effects of hypoxia alone. Instead, analysis of cards in combination with the low incidence of protan color vision defects at altitude indicated that glare and contrast effects in the extremely bright lighting environment combined with hypoxia likely caused the perception of a grayer red. The incident provides an educational opportunity for review, analysis, and commentary about some of the complex elements that impact color vision.
Topics: Humans; Color Vision; Color Perception; Altitude; Color Vision Defects; Hypoxia
PubMed: 37775373
DOI: 10.1016/j.wem.2023.08.003 -
Die Ophthalmologie Nov 2023Glaucoma is not a rare entity but because very few symptoms occur and visual field defects are frequently first recognized at a late stage, a large proportion of... (Review)
Review
BACKGROUND
Glaucoma is not a rare entity but because very few symptoms occur and visual field defects are frequently first recognized at a late stage, a large proportion of glaucoma diseases remain undetected. The aim of this study was to identify the proportion of undiagnosed glaucoma in German population-based cohort studies and to contextualize them in the context of the literature.
MATERIAL AND METHODS
The prevalence of glaucoma in the Gutenberg Health Study (GHS) and the age-related investigations on health of the University of Regensburg (AugUR) was evaluated based on visual field examinations and optic disc color photography according to the ISGEO criteria. Furthermore, the self-reported glaucoma diagnoses were collected and the proportion of undiagnosed glaucoma was determined.
RESULTS
The proportion of undiagnosed glaucoma was 55% in the GHS, and 53% in the AugUR study. The results correlate with results from previous studies from other countries in which the proportion of unrecognized glaucoma ranged from 33% to 78%. In the GHS and the AugUR study the proportion of undiagnosed glaucoma was higher in younger age groups and in women.
DISCUSSION
Roughly every second case of glaucoma is undetected. As the symptoms are often nonspecific or take a long time to appear, there is a risk of advanced glaucomatous visual field defects or blindness due to a lack of glaucoma awareness. Studies have shown that a systematic screening can halve this risk.
Topics: Humans; Female; Intraocular Pressure; Glaucoma; Visual Field Tests; Visual Fields; Optic Disk; Vision Disorders
PubMed: 37847376
DOI: 10.1007/s00347-023-01943-0 -
Ophthalmology Oct 2023
Topics: Humans; Color Vision Defects; Macula Lutea; Electroretinography; Cyclic Nucleotide-Gated Cation Channels
PubMed: 36682978
DOI: 10.1016/j.ophtha.2022.11.001 -
Anesthesia and Analgesia Nov 2023Profound racial and ethnic disparities have been documented in health and health care outcomes in recent decades. Some researchers have erroneously ascribed these...
Profound racial and ethnic disparities have been documented in health and health care outcomes in recent decades. Some researchers have erroneously ascribed these inequities to biological variations, prompting debate as to how, or even if, race and ethnicity should be included as an outcome variable. Color blindness is a racial ideology with roots in constitutional law that posits that equality is best achieved by disregarding the racial and ethnic characteristics of the individual. Color consciousness, in contrast, approaches disparities with the knowledge that experiences related to one's race and ethnicity influence an individual's health and well-being. In this Pro-Con commentary article, we discuss the concept of color blindness and debate its use as an approach in medicine and research.
Topics: Humans; Color Vision Defects; Ethnicity; Consciousness; Research Personnel
PubMed: 37862397
DOI: 10.1213/ANE.0000000000006258 -
Current Biology : CB Sep 2023A new study describes a set of behavioural experiments that assess whether gene therapy can restore colour vision in patients with congenital achromatopsia.
A new study describes a set of behavioural experiments that assess whether gene therapy can restore colour vision in patients with congenital achromatopsia.
Topics: Humans; Color Vision Defects; Color Vision
PubMed: 37699345
DOI: 10.1016/j.cub.2023.07.065