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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 -
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 -
Die Ophthalmologie Sep 2023Achromatopsia or rod monochromatism is a congenital autosomal recessive retinal dystrophy which leads to dysfunctional cones, with decreased visual acuity, extremely...
Achromatopsia or rod monochromatism is a congenital autosomal recessive retinal dystrophy which leads to dysfunctional cones, with decreased visual acuity, extremely limited color vision, nystagmus and photophobia. Due to the initially normally appearing ocular morphology, the diagnosis is often delayed. With imaging procedures, e.g., fluorescence-autofluorescence (FAF) and optical coherence tomography (OCT), different morphological forms of achromatopsia can be discriminated that do not seem to have a differential effect on visual function. Crucial is the provision of specific edge filters. Mutations in six genes are known to cause achromatopsia. For the two most frequent genes, CNGA3 and CNGB3, gene addition therapies are currently being tested. Such future approaches should be applied before the manifestation of sensory-related amblyopia in the visual cortex. Accordingly, state of the art management of achromatopsia should provide a diagnosis in early childhood including genotyping.
Topics: Child, Preschool; Humans; Color Vision Defects; Quality of Life; Brain; Retinal Cone Photoreceptor Cells
PubMed: 37638972
DOI: 10.1007/s00347-023-01904-7 -
Ophthalmology. Retina Mar 2024To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess...
OBJECTIVE
To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure.
DESIGN
Retrospective, longitudinal, single-center case series.
PARTICIPANTS
One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom.
METHODS
All case notes, results of molecular genetic testing, and OCT were reviewed.
MAIN OUTCOME MEASURES
Molecular genetics, presenting complaints, rates of nystagmus, nyctalopia, photophobia, strabismus, color vision defects and spherical equivalent refraction (SER). Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging.
RESULTS
X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. The mean (± standard deviation) reported age of onset was 4.94 ± 8.99 years. Over the follow-up period, 95.9% of patients reported reduced visual acuity (VA), half had nystagmus, and 64.7% reported nyctalopia. Incomplete CSNB (iCSNB) patients more frequently had nystagmus and photophobia. Nyctalopia was similar for iCSNB and complete CSNB (cCSNB). Color vision data were limited but more defects were found in iCSNB. None of these clinical differences met statistical significance. There was no significant difference between groups in VA, with a mean of 0.46 logarithm of the minimum angle of resolution, and VA remained stable over the course of follow-up. Complete congenital stationary night blindness patients, specifically those with NYX and TRPM1 variants, were more myopic. CACNA1F patients showed the largest refractive variability, and the CABP4 patient was hyperopic. No significant differences were found in OCT structural analysis during the follow-up period.
CONCLUSIONS
Retinal structure in CSNB is stationary and no specific genotype-structure correlates were identified. Visual acuity seems to be relatively stable, with rare instances of progression.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38522615
DOI: 10.1016/j.oret.2024.03.017 -
Klinische Monatsblatter Fur... Oct 2023
Topics: Humans; Child; Keratoconus; Color Vision Defects; Dry Eye Syndromes; Uveitis
PubMed: 37871591
DOI: 10.1055/a-2101-7551 -
Ophthalmic Genetics Apr 2024ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision.
BACKGROUND
ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision.
METHODS
Detailed ophthalmological examinations were performed in a Chinese patient with ACHM. Whole exome sequencing and Sanger sequencing were performed to detect the disease-causing gene in the patient.
RESULTS
A 6-year-old girl presented photophobia, low vision and reduced color discrimination. Small yellow lesion in the macula of both eyes was observed. FAF demonstrated hypofluorescence in the macular fovea. OCT images revealed interruption of ellipsoid and interdigitation zone in the foveal area and a loss of the foveal pit. ERG showed relatively normal rod responses and unrecordable cone responses. Sequencing result identified a novel splicing variant c.354 + 6T>C in the ATF6 gene (NM_007348.4).
CONCLUSIONS
We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.
Topics: Child; Female; Humans; Activating Transcription Factor 6; China; Color Vision Defects; Photophobia; Retinal Cone Photoreceptor Cells; Tomography, Optical Coherence
PubMed: 38419580
DOI: 10.1080/13816810.2024.2322643 -
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 -
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 -
Journal of the Science of Food and... Oct 2023Bruises caused by mechanical collision during the harvesting and storage and transportation period are difficult to detect using traditional machine vision technologies...
BACKGROUND
Bruises caused by mechanical collision during the harvesting and storage and transportation period are difficult to detect using traditional machine vision technologies because there is no obvious difference in appearance between bruised and sound tissues. As a result of its fast and non-destructive characteristics, hyperspectral imaging technology is a potential tool for non-destructive detection of fruit surface defects.
RESULTS
In the present study, visible near infrared hyperspectral reflectance images of healthy apples and bruised apples at 6, 12 and 24 h were obtained. To reduce hyperspectral data dimension, optimal wavelength selection algorithms including principal component analysis (PCA) and band ratio methods were utilized to select the effective wavelengths and enhance the contrast between bruised and sound tissues. Then pseudo-color image transformation technology combining with improved watershed segmentation algorithm (IWSA) were employed to recognize the bruise spots. The result obtained showed that band ratio images obtained better detection performance than that of PCA. The G component derived from pseudo-color image of followed by IWSA obtained the best segmentation performance for bruise spots. Finally, a multispectral imaging system for the detection of bruised apple was developed to verify the effectiveness of the proposed two-band ratio algorithm, obtaining recognition rates of 93.3%, 92.2% and 92.5% for healthy, bruised and overall apples, respectively.
CONCLUSION
The bruise detection algorithm proposed in the present study has potential to detect bruised apple in online practical applications and hyperspectral reflectance imaging offers a useful reference for the detection of surficial defects of fruit. © 2023 Society of Chemical Industry.
Topics: Humans; Malus; Hyperspectral Imaging; Fruit; Algorithms; Contusions
PubMed: 37267465
DOI: 10.1002/jsfa.12764 -
Photodiagnosis and Photodynamic Therapy Sep 2023This study aimed to examine the color discrimination ability of patients with transfusion-dependent beta-thalassemia (TDβ-T) in detail using the Farnsworth Munsell (FM)...
Investigation of the color discrimination ability using the Farnsworth-Munsell 100-hue test and structural changes by SS-OCT in patients with transfusion-dependent beta-thalassemia.
AIM
This study aimed to examine the color discrimination ability of patients with transfusion-dependent beta-thalassemia (TDβ-T) in detail using the Farnsworth Munsell (FM) 100-hue test and to evaluate structural changes by swept source-optical coherence tomography (SS-OCT).
MATERIAL AND METHODS
This prospective, sectional study included 40 patients (79 eyes) with TDβ-T and 21 controls (42 eyes). The volunteers underwent a detailed ophthalmological examination and SS-OCT (DRI-OCT, Triton) imaging. Excluded were those with congenital color vision defects detected with the Ishihara pseudoisochromatic test. The patients' color vision was examined using the FM 100-hue test. The total error score (TES), the blue-yellow local error score (b-y LES), and the red-green local error score (r-g LES) were calculated. p <0.05 was considered significant.
RESULTS
The mean age was 30.34±6.94 years in the patient group and 32.26±6.43 years in the control group (p = 0.078). The patient group had a significantly lower hemoglobin level (9.25±0.87 g/dL vs. 14±1.79 g/dL, p <0.001) and a significantly higher ferritin level (2665.56±2658.05 μg/L vs. 52.87±69.59 μg/L, p<0.001) compared to the control group. The mean TES, b-y LES, and r-g LES were higher in the patients than in the controls (64.84±30.18 vs. 28.45±16.55, p<0.001, 34.21±17.54 vs. 15.67±10.07, p <0.001, and 29.32±15.72 vs. 12.12±7.94, p<0.001, respectively). The patients had a higher b-y LES than r-g LES (34.21±17.54 vs. 29.32±15.72, p = 0.015). Choroidal thickness was lower in the patients than in the controls (284.34±63.55 µm vs. 324.98±88.05 µm, p = 0.043).
CONCLUSION
We found that the color discrimination ability of the patients with TDβ-T was reduced in both the r-g and b-y color axes compared to the controls, and their color discrimination ability in the b-y color axis was more affected than in the r-g axis.
Topics: Humans; Young Adult; Adult; Color Perception; Prospective Studies; Tomography, Optical Coherence; beta-Thalassemia; Photochemotherapy; Photosensitizing Agents
PubMed: 37481147
DOI: 10.1016/j.pdpdt.2023.103716