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Acta Paediatrica (Oslo, Norway : 1992) Feb 2024
Topics: Child; Humans; Color Vision Defects; Schools
PubMed: 37849062
DOI: 10.1111/apa.17010 -
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 -
Investigative Ophthalmology & Visual... Oct 2023Achromatopsia is a rare inherited disorder rendering retinal cone photoreceptors nonfunctional. As a consequence, the sizable foveal representation in the visual cortex...
PURPOSE
Achromatopsia is a rare inherited disorder rendering retinal cone photoreceptors nonfunctional. As a consequence, the sizable foveal representation in the visual cortex is congenitally deprived of visual input, which prompts a fundamental question: is the cortical representation of the central visual field in patients with achromatopsia remapped to take up processing of paracentral inputs? Such remapping might interfere with gene therapeutic treatments aimed at restoring cone function.
METHODS
We conducted a multicenter study to explore the nature and plasticity of vision in the absence of functional cones in a cohort of 17 individuals affected by autosomal recessive achromatopsia and confirmed biallelic disease-causing CNGA3 or CNGB3 mutations. Specifically, we tested the hypothesis of foveal remapping in human achromatopsia. For this purpose, we applied two independent functional magnetic resonance imaging (fMRI)-based mapping approaches, i.e. conventional phase-encoded eccentricity and population receptive field mapping, to separate data sets.
RESULTS
Both fMRI approaches produced the same result in the group comparison of achromatopsia versus healthy controls: sizable remapping of the representation of the central visual field in the primary visual cortex was not apparent.
CONCLUSIONS
Remapping of the cortical representation of the central visual field is not a general feature in achromatopsia. It is concluded that plasticity of the human primary visual cortex is less pronounced than previously assumed. A pretherapeutic imaging workup is proposed to optimize interventions.
Topics: Humans; Color Vision Defects; Retinal Cone Photoreceptor Cells; Cyclic Nucleotide-Gated Cation Channels; Mutation; Visual Cortex
PubMed: 37847226
DOI: 10.1167/iovs.64.13.23 -
Acta Paediatrica (Oslo, Norway : 1992) Feb 2024To quantify the impact of prematurity on chromatic discrimination throughout childhood, from 2 to 15 years of age.
AIM
To quantify the impact of prematurity on chromatic discrimination throughout childhood, from 2 to 15 years of age.
METHODS
We recruited two cohorts of children, as part of the TrackAI Project, an international project with seven different study sites: a control group of full-term children with normal visual development and a group of children born prematurely. All children underwent a complete ophthalmological exam and an assessment of colour discrimination along the three colour axes: deutan, protan and trytan using a DIVE device with eye tracking technology.
RESULTS
We enrolled a total of 1872 children (928 females and 944 males) with a mean age of 6.64 years. Out of them, 374 were children born prematurely and 1498 were full-term controls. Using data from all the children born at term, reference normative curves were plotted for colour discrimination in every colour axis. Pre-term children presented worse colour discrimination than full-term in the three colour axes (p < 0.001). Even after removing from the comparison, all pre-term children with any visual disorder colour discrimination outcomes remained significantly worse than those from full-term children.
CONCLUSION
While colour perception develops throughout the first years of life, children born pre-term face an increased risk for colour vision deficiencies.
Topics: Male; Infant, Newborn; Female; Pregnancy; Humans; Child; Color Perception; Color Vision Defects; Infant, Premature; Parturition; Visual Perception
PubMed: 37775921
DOI: 10.1111/apa.16978 -
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 -
Journal of Pediatric Ophthalmology and... 2023Achromatopsia, inherited in an autosomal recessive manner, is a rare condition featured by dysfunction of cone photoreceptors responsible for high-acuity vision in...
Achromatopsia, inherited in an autosomal recessive manner, is a rare condition featured by dysfunction of cone photoreceptors responsible for high-acuity vision in daylight. To date, its pathogenesis and genetic mechanism are still not well defined due to the rarity of cases. In this study, the authors describe a patient with achromatopsia who was diagnosed based on the combination of whole exome sequencing, ocular examination, fundus photography, and fundus fluorescein angiography. A 1-year-old girl presented due to absence of the foveal reflex, severe photophobia, and pigment mottling. Fundus photography and fundus fluorescein angiography were performed on admission. Blood samples were extracted from the proband and her parents. Whole exome sequencing detected two variants (c.533C>A and c.82+1G>T), which were confirmed through Sanger sequencing. According to the American College of Medical Genetics guidelines, both c.533C>A and c.82+1G>T variants in were predicted as pathogenic mutations (PVS1, PM2, PM3). The patient was diagnosed as having achromatopsia with pathogenicity of variants (c.533C>A and c.82+1G>T). .
Topics: Female; Humans; Infant; Color Vision Defects; Exome Sequencing; Mutation; Retinal Cone Photoreceptor Cells; Pedigree; Activating Transcription Factor 6
PubMed: 37747165
DOI: 10.3928/01913913-20230814-02 -
Digital Journal of Ophthalmology : DJO 2023We present a case of presumed topiramate-induced retinopathy in a 58-year-old woman who presented with progressive, bilateral visual loss following a 3- to 4-year...
We present a case of presumed topiramate-induced retinopathy in a 58-year-old woman who presented with progressive, bilateral visual loss following a 3- to 4-year history of oral topiramate intake for migraine. She reported difficulty with light adaptation, hemeralopia, and color desaturation. Her best-corrected visual acuity was 1/60 (20/1200) in the right eye and 6/18 (20/60) in the left eye, and she performed poorly on Ishihara color plate testing. Anterior segment examination was normal; dilated funduscopy showed mild macular pigmentary changes. Optical coherence tomography revealed subtle thinning and reduced reflectivity of the subfoveal ellipsoid zone and interdigitation zone bilaterally, associated with increased foveal autofluorescence. Humphrey visual field 24-2 revealed central defects. Electrodiagnostic testing showed a reduced and delayed b-wave and a normal a-wave on photopic full-field electroretinogram (ERG), with normal scotopic responses; multifocal ERG revealed reduced responses in the inner 10° in both eyes. She underwent extensive investigations including whole-body computed tomography and positron emission tomography scan, magnetic resonance imaging of the brain, uveitis screening, retinal autoantibody testing, and genetic testing on the retinal dystrophy panel to rule-out other causes for her presentation, all of which were normal or negative.
Topics: Female; Humans; Middle Aged; Electroretinography; Migraine Disorders; Retina; Retinal Dystrophies; Topiramate
PubMed: 37727465
DOI: 10.5693/djo.02.2023.01.004 -
BMC Ophthalmology Sep 2023Posterior scleritis is an inflammatory reaction of the sclera that occurs posterior to the ora serrata. The aim of this study was to present a case of posterior...
BACKGROUND
Posterior scleritis is an inflammatory reaction of the sclera that occurs posterior to the ora serrata. The aim of this study was to present a case of posterior scleritis and to analyze choroidal circulatory and structural changes using laser speckle flowgraphy (LSFG) and optical coherence tomography (OCT), respectively.
CASE PRESENTATION
A 64-year-old man presented to our department because of hyperemia of the left eye for one week, diplopia, ocular pain, and distorted vision when looking leftward. At an initial examination, his best-corrected visual acuity was 1.0 Oculi uterque (OU), with mild conjunctival hyperemia oculus dexter (OD) and marked ciliary hyperemia oculus sinister (OS). Color fundus photographs revealed a cluster of choroidal folds extending from the macula to the inferior retinal region OS. Swept-Source OCT showed choroidal thickening OD, and bacillary layer detachment and paracentral middle maculopathy on the paracentral side of the optic nerve papilla, suggesting severe inflammation. Fluorescein angiography showed hyperfluorescence in the optic disc and window defects around the macula OU. Indocyanine green angiography showed mottled choroidal vascular hyperpermeability findings in the late stage. B-mode echography displayed thickening of the posterior wall of the left eye. Orbital magnetic resonance imaging showed the thickened posterior eyeball. The patient was diagnosed with posterior scleritis, and 30 mg of oral prednisolone was then given and tapered off over the next 4 months. The hyperemia and intraocular inflammation resolved after the treatment. The rate of change in macular blood flow assessed by the mean blur rate on LSFG was 20.5% and 20.2% decrease OD and OS, respectively, before and after treatment. The central choroidal thickness showed 8.8% and 37.8% decrease OD and OS, respectively.
CONCLUSION
Posterior scleritis complicated with choroiditis was suggested to show different choroidal circulatory dynamics from those in other choroidal inflammations.
Topics: Male; Humans; Middle Aged; Scleritis; Hyperemia; Choroid; Inflammation; Retina
PubMed: 37726746
DOI: 10.1186/s12886-023-03140-8 -
Klinische Monatsblatter Fur... Oct 2023Achromatopsia (ACHM) as a hereditary cone disease might manifest in a stationary and progressive manner. The proper clinical and genetic diagnosis may allow an...
BACKGROUND
Achromatopsia (ACHM) as a hereditary cone disease might manifest in a stationary and progressive manner. The proper clinical and genetic diagnosis may allow an individual prognosis, accurate genetic counselling, and the optimal choice of low vision aids. The primary aim of the study was to determine the spectrum of clinical and genetic diagnostics required to characterize the ACHM.
METHODS
A retrospective analysis was performed in 8 patients from non-related families (5 ♀,3 ♂); age at diagnosis: 3 - 56 y, mean 18.13 (SD ± 18.22). Clinical phenotyping, supported by colour vision test, fundus photography-, autofluorescence- (FAF), infra-red- (IR), OCT imaging and electroretinography provided information on the current status and the course of the disease over the years. In addition, genetic examinations were performed with ACHM relevant testing ( and the transcription factor ).
RESULTS
All patients suffered photophobia and reduced visual acuity (mean: 0.16 [SD ± 0.08]). Nystagmus was identified in 7 from 8 subjects and in one patient a head-turn right helped to reduce the nystagmus amplitude. Colour vision testing confirmed complete achromatopsia in 7 out of 8 patients. Electrophysiology found severely reduced photopic- but also scotopic responses. Thinning and interruption of the inner segment ellipsoid (ISe) line within the macula but also FAF- and IR abnormalities in the fovea and/or parafovea were characteristic in all ACHM patients. Identification of pathogenic mutations in 7 patients helped to confirm the diagnosis of ACHM (3 adults, 4 children; 3 ♀ and 4 ♂). Achromatopsia was linked to (2 ♀, 1 ♂) and variants (2 ♀, 3 ♂). The youngest patient (♀, 10 y) had 3 different variants on different alleles. In a patient (♂, 29 y) carrying 2 pathogenic digenic-triallelic - and -mutations, a severe progression of ISe discontinuity to coloboma-like macular atrophy was observed during the 12-year follow-up. The oldest female (67 y) showed a compound homozygous - and heterozygous -, as well as a heterozygous variants. The destruction of her ISe line was significantly enlarged and represented a progressive cone-rod phenotype in comparison to other ACHM patients. In a patient (♂, 45 y) carrying a pathogenic and mutation, a severe macular oedema and a rod-cone phenotype was observed. In addition, two variants in considered as VOS were found. One patient showed the rare mutation, where a severe coloboma-like macular atrophy was observed on the left eye as early as at the age of three years.
CONCLUSION
Combining multimodal ophthalmological diagnostics and molecular genetics when evaluating patients with ACHM helps in characterizing the disease and associated modifiers, and is therefore strongly recommended for such patients.
PubMed: 37714190
DOI: 10.1055/a-2176-4233 -
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