-
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 -
International Journal of Ophthalmology 2023To determine the prevalence of red-green (RG) color vision deficiency (CVD) in an elderly population and its related factors.
AIM
To determine the prevalence of red-green (RG) color vision deficiency (CVD) in an elderly population and its related factors.
METHODS
This report is a part of the Tehran Geriatric Eye Study: a cross-sectional population-based study that was conducted on the elderly population (≥60y) of Tehran, Iran using multi-stage stratified random cluster sampling. All study participants underwent complete ocular examination, including the measurement of uncorrected and best-corrected visual acuity, objective and subjective refraction, and slit-lamp biomicroscopy. The color vision was tested using Ishihara plates with the near optical correction in place.
RESULTS
Of the 3791 invitees, 3310 participated in the study. The data of 2164 individuals were analyzed after applying the exclusion criteria. The prevalence of R-G CVD was 3.73% (95%CI: 2.37%-5.09%) in the whole sample; the prevalence of protanomaly, protanopia, and deuteranopia was 1.51%, 1.76%, and 0.45%, respectively. The prevalence of R-G CVD was significantly higher in males than in females. The prevalence of RG CVD increased with advancing age from 2.91% in the age group 60-64y to 5.8% in the age group ≥80y (=0.070). According to the multiple logistic regression model, male sex, and glaucoma were significantly related to RG CVD. Older age and hypertension also had a marginally significant relationship with RG CVD.
CONCLUSION
Changes in color vision occur in the elderly due to the aging process and some physiological and pathological factors. Since the change in visual perception may affect the person's performance, this aspect of the visual system's function should also be taken into consideration in the examinations of the elderly.
PubMed: 37724279
DOI: 10.18240/ijo.2023.09.22 -
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 -
Genetics in Medicine : Official Journal... Dec 2023CNGA3 encoding the main subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is one of the major disease-associated genes for achromatopsia. Most...
PURPOSE
CNGA3 encoding the main subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is one of the major disease-associated genes for achromatopsia. Most CNGA3 variants are missense variants with the majority being functionally uncharacterized and therefore hampering genetic diagnosis. In light of potential gene therapy, objective variant pathogenicity assessment is essential.
METHODS
We established a medium-throughput aequorin-based luminescence bioassay allowing mutant CNGA3 channel function assessment via quantification of CNGA3 channel-mediated calcium influx in a cell culture system, thereby enabling American College of Medical Genetics and Genomics/Association for Molecular Pathology-based variant re-classification.
RESULTS
We provide functional read-out obtained for 150 yet uncharacterized CNGA3 missense substitutions of which 55 were previously categorized as variants of uncertain significance (VUS) identifying 25 as functionally normal and 125 as functionally abnormal. These data enabled the American College of Medical Genetics and Genomics/ Association for Molecular Pathology-based variant re-classification of 52/55 VUS as either benign, likely benign, or likely pathogenic reaching a VUS re-classification rate of 94.5%.
CONCLUSION
Our aequorin-based bioassay allows functionally ensured clinical variant interpretation for 150 CNGA3 missense variants enabling and supporting VUS re-classification and assuring molecular diagnosis to patients affected by CNGA3-associated achromatopsia, hereby identifying patients eligible for future gene therapy trials on this disease.
Topics: Humans; Color Vision Defects; Aequorin; Retinal Cone Photoreceptor Cells; Mutation, Missense; Genomics; Cyclic Nucleotide-Gated Cation Channels
PubMed: 37689994
DOI: 10.1016/j.gim.2023.100979 -
PloS One 2023Colour-related search tasks are common in many professional fields. The study investigated whether increasing chromatic saturation can enhance the visual performance of...
BACKGROUND
Colour-related search tasks are common in many professional fields. The study investigated whether increasing chromatic saturation can enhance the visual performance of individuals with colour vision deficiency (CVD) in colour-related search tasks.
METHODS
10 normal trichromats (5M, 5F; Mean (SD) age: 23.1 (3.3) years) and 15 individuals with CVD [8 deutans and 7 protans identified by HRR plates] (14M, 1F; aged 28.6 (8.7) years) participated in this study. Four naturalistic sceneries of everyday tasks/ birds, animals and flowers of 15 different colour combinations (1 pair of colours in each combination. e.g., 'brown/black' or 'red/green') were presented in 'low' saturation, 'original' (unaltered images) and 'high' saturation condition using the Psychopy program on a colour-calibrated monitor. On each trial, the subject was asked to identify a specific-coloured target.
RESULTS
Overall, the visual search performance index (expressed as product of accuracy and a reciprocal of reaction time (%correct*s-1) of the normal trichromats [Mean (SD):77.76% correct*s-1 (16.32)] was significantly higher than CVD [45.71% correct*s-1 (18.95)] in the "original" test images (p = 0.001), but in individuals with CVD, there was no significant difference between 'original' [45.71% correct*s-1 (18.95)] and 'high' saturation condition ([47.43% correct*s-1 (20.07)]; p > 0.05). However, colour-wise, increased saturation showed improvements (≥ 10%) in protans mainly for 'red' combinations with other colours such as white (i.e., 'red/white'), purple, orange, grey, green, brown and black.
CONCLUSION
The study suggests that increasing the saturation of certain colour combinations can potentially aid in the visual search performance of individuals with CVD. This knowledge will help in better counselling and management of the patients.
Topics: Animals; Chemical Phenomena; Color Vision Defects; Flowers; Humans; Male; Female; Young Adult; Adult
PubMed: 37682873
DOI: 10.1371/journal.pone.0290782 -
Documenta Ophthalmologica. Advances in... Dec 2023Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual...
PURPOSE
Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.
METHODS
We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia. The patient underwent functional and morphologic examinations, including fundus autofluorescence imaging, spectral-domain optical coherence tomography, electroretinography, color vision and visual field testing.
RESULTS
Diagnostic genetic testing via whole genome sequencing and virtual inherited retinal disease gene panel evaluation finally identified two compound heterozygous variants c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T > C;p.(Leu805Pro) in the CEP290 gene.
CONCLUSIONS
CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.
Topics: Humans; Female; Cone Dystrophy; Color Vision Defects; Electroretinography; Mutation; Phenotype; Retinal Dystrophies; Tomography, Optical Coherence
PubMed: 37642804
DOI: 10.1007/s10633-023-09940-z -
Sensors (Basel, Switzerland) Jul 2023Ensuring the quality of color contact lenses is vital, particularly in detecting defects during their production since they are directly worn on the eyes. One...
Ensuring the quality of color contact lenses is vital, particularly in detecting defects during their production since they are directly worn on the eyes. One significant defect is the "center deviation (CD) defect", where the colored area (CA) deviates from the center point. Measuring the extent of deviation of the CA from the center point is necessary to detect these CD defects. In this study, we propose a method that utilizes image processing and analysis techniques for detecting such defects. Our approach involves employing semantic segmentation to simplify the image and reduce noise interference and utilizing the Hough circle transform algorithm to measure the deviation of the center point of the CA in color contact lenses. Experimental results demonstrated that our proposed method achieved a 71.2% reduction in error compared with existing research methods.
PubMed: 37514827
DOI: 10.3390/s23146533 -
Genes Jun 2023Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision....
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (, , , , ) and of the unfolded protein response () have been related to ACHM cases, while and alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the and genes. Patients' genotype and phenotype were retrospectively evaluated. The majority of variants were missense, and the most prevalent variant was c.1148delC (p.Thr383Ilefs*13), resulting in a frameshift and premature stop codon, which is compatible with previous publications in the literature. A novel variant c.1893T>A (p.Tyr631*) in the gene is reported for the first time in this study. A great variability in morphologic findings was observed in our patients, although no consistent correlation with age and disease stage in OCT foveal morphology was found. The better understanding of the genetic variants landscape in the Brazilian population will help in the diagnosis of this disease.
Topics: Humans; Color Vision Defects; Mutation; Brazil; Retrospective Studies; Cyclic Nucleotide-Gated Cation Channels
PubMed: 37372476
DOI: 10.3390/genes14061296 -
Frontiers in Genetics 2023Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (,...
Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (, , ) or as a combination of genetic predisposition and environmental factors. To date, apart from Mendelian CVDs forms, nothing is known about multifactorial CVDs forms. Five hundred and twenty individuals from Silk Road isolated communities were genotyped and phenotypically characterized for CVDs using the Farnsworth D-15 color test. The CVDs traits Deutan-Protan (DP) and Tritan (TR) were analysed. Genome Wide Association Study for both traits was performed, and results were corrected with a False Discovery Rate linkage-based approach (FDR-p). Gene expression of final candidates was investigated using a published human eye dataset, and pathway analysis was performed. Concerning DP, three genes: (FDR-p: 9.01*10), (FDR-p: 4.97*10) and (FDR-p: 4.98*10), stood out as promising candidates. is involved in the preservation of Retinal Pigmented Epithelium (RPE) homeostasis while and are both involved in visual signal transmission. With regards to TR, four genes: (FDR-p: 4.09*10), (FDR-p: 6,52*10), (FDR-p: 8.34*10), and (FDR-p: 2.10*10), were considered promising candidates. is reported to be associated with Retinitis pigmentosa; is reported to regulate choroidal vascularization in Age-Related Macular Degeneration; is involved in RPE homeostasis regulation; is reported to regulate lacrimal gland function. Overall, these results provide novel insights regarding a complex phenotype (i.e., CVDs) in an underrepresented population such as Silk Road isolated communities.
PubMed: 37359372
DOI: 10.3389/fgene.2023.1161696