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Scientific Reports Jun 2023The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone...
The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< - 6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited to female carriers. Protan/deutan color vision defects were also found in family members, affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsening cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis that higher visual contrast due to the mosaic of mutated ARR3 expression in cones contributes to the development of myopia in female carriers.
Topics: Child; Female; Humans; Male; Arrestin; Color Vision; Color Vision Defects; Mutation; Myopia; Retinal Cone Photoreceptor Cells
PubMed: 37268727
DOI: 10.1038/s41598-023-36141-0 -
Quality of Life Research : An... Apr 2019This article shows an integrative review on the impact that abnormal color vision may have on the daily routine of individuals. (Review)
Review
BACKGROUND
This article shows an integrative review on the impact that abnormal color vision may have on the daily routine of individuals.
PURPOSE
We followed the PRISMA guidelines for reviews and carried out researches in four databases (Pubmed, Lilacs, Scopus, and Web of Science) using keywords related to the impact of abnormal color vision.
METHOD
Initially, 805 articles were retrieved and after a first filtering stage, we selected 74 articles for a detailed analysis of the abstracts in which it was found that a total of 20 studies were in fact related to the topic of this review. We then read the selected studies in full and those included in the final selection were analyzed and categorized into specific topic groups of findings. Seven categories were created in total: "impact on daily routine activities", "occupational impact", "impact on product choice motivation", "emotional impact", "impact on school or professional qualification", "impact on self-care and health", and "advantages".
RESULTS
From the definition of these categories we could understand that people with some degree of color vision loss face challenges in different aspects of their daily life, especially in their work activities. Still, the amount of research and hence technical support which could be offered to this population is restricted. Additionally, the scarce availability of publications on the topic and the fact that they include very specific groups of people, such as drivers and medical students, allow us to draw only partial conclusions about the all possible impacts yield by such perceptual difference since they observe the impact of the color-vision deficiency in their daily routine from a specific and precise point of view.
CONCLUSIONS
A broader view of the impact of this problem on the daily life of its carriers is fundamental for implementing strategies that allow such people to be included in all sorts of activities or for the impact of this sensory change to be decreased or treated in a way that would reduce the detrimental impacts.
Topics: Color Vision; Color Vision Defects; Female; Humans; Male; Quality of Life
PubMed: 30443703
DOI: 10.1007/s11136-018-2030-1 -
BMC Research Notes Jun 2019Congenital colour vision deficiency (CCVD) is an x-linked chromosome disorder that results from abnormalities in one or all three-cone type's photoreceptors. Early...
OBJECTIVES
Congenital colour vision deficiency (CCVD) is an x-linked chromosome disorder that results from abnormalities in one or all three-cone type's photoreceptors. Early assessment and diagnosis of CCVD is necessary to minimise the disability associated with the condition. Multistage sampling was used to determine the prevalence of CCVD among Black South African school children in Durban, South Africa. The examination included visual acuity measurements, ocular motility evaluation, retinoscopy, auto-refraction, and examination of the anterior segment, media and fundus. Colour vision testing was performed using Colour Vision Testing Made Easy colour plates (Home Vision Care, Gulf Breeze, FL).
RESULTS
1305 (704 boys and 601 girls) Black school children participated in the study. The overall prevalence of colour vision deficiency was 29 (2.2%), which was higher in boys (25, 4.2%) than girls (4, 0.6%), with prevalence of protanopia and deuteranopia found to be 10 (0.7%) and 19 (1.5%), respectively. The prevalence of protanopia and deuteranopia among males was nine (1.5%) and 16 (2.7%) respectively, which was significantly higher than the 1 (0.1%) protanopia and 3 (0.4%) deuteranopia in females (p < 0.05). Policies and guidelines for comprehensive school eye health programmes which screen children for CCVD are required in South Africa.
Topics: Adolescent; Child; Cities; Color Perception Tests; Color Vision Defects; Female; Humans; Male; Prevalence; Refraction, Ocular; Retinoscopy; Schools; Sex Factors; South Africa; Visual Acuity
PubMed: 31182158
DOI: 10.1186/s13104-019-4374-1 -
Advanced Healthcare Materials Jun 2018Color vision deficiency (color blindness) is an inherited genetic ocular disorder. While no cure for this disorder currently exists, several methods can be used to...
Color vision deficiency (color blindness) is an inherited genetic ocular disorder. While no cure for this disorder currently exists, several methods can be used to increase the color perception of those affected. One such method is the use of color filtering glasses which are based on Bragg filters. While these glasses are effective, they are high cost, bulky, and incompatible with other vision correction eyeglasses. In this work, a rhodamine derivative is incorporated in commercial contact lenses to filter out the specific wavelength bands (≈545-575 nm) to correct color vision blindness. The biocompatibility assessment of the dyed contact lenses in human corneal fibroblasts and human corneal epithelial cells shows no toxicity and cell viability remains at 99% after 72 h. This study demonstrates the potential of the dyed contact lenses in wavelength filtering and color vision deficiency management.
Topics: Color Vision Defects; Contact Lenses, Hydrophilic; Cornea; Epithelial Cells; Female; Humans; Male; Materials Testing; Rhodamines
PubMed: 29696828
DOI: 10.1002/adhm.201800152 -
Clinics in Dermatology 2019The physical nature of color is well known and is based on its wavelength; however, the color perception in humans and animals is much less understood and is based...
The physical nature of color is well known and is based on its wavelength; however, the color perception in humans and animals is much less understood and is based mostly only on some assumptions and theories. We present the current knowledge on both of these topics, describe the anatomic basis for color vision, and discuss color vision deficiencies. Color vision disturbances can not only interfere with everyday activities but also impede performing specific professions. Commercial or military pilots, electricians, defense forces including paramilitary, food and art critics, and some physicians, scientists, and engineers may not be able to perform their professions to the full extent. Colors play an important role in the culture of various societies. The same color can have the opposite meaning in different cultures. Lack of knowledge of these meanings, when overcoming huge distances, is no longer a problem, but it can lead to unpleasant misunderstandings. Such cultural meanings of color are also discussed.
Topics: Animals; Color; Color Perception; Color Vision; Color Vision Defects; Culture; Eye; Humans; Visual Cortex
PubMed: 31896397
DOI: 10.1016/j.clindermatol.2019.07.008 -
Ophthalmic Genetics Apr 2018Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be... (Review)
Review
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials.
Topics: Animals; Color Vision Defects; Disease Models, Animal; Genetic Therapy; Humans; Molecular Biology
PubMed: 29303385
DOI: 10.1080/13816810.2017.1418389 -
Eye (London, England) Aug 2021In the absence of pre-admission testing for colour blindness, many of the currently practicing ophthalmologists are colour blind, accordingly their accuracy of...
PURPOSE
In the absence of pre-admission testing for colour blindness, many of the currently practicing ophthalmologists are colour blind, accordingly their accuracy of distinguishing fine diabetic retinopathy (DR) changes is still unknown. This study aims to assess the accuracy of diagnosing and staging diabetic retinopathy and macular oedema among protonopic, deutronopic and tritanopic ophthalmologists.
METHODS
Cross-sectional assessment of fundus images that were prepared to simulate the appearance in cases of colour blindness. We assessed the accuracy of staging diabetic retinopathy and macular oedema by a retina specialist on colour-blind simulated images. We used randomiser.org to randomly select images to be simulated by the previously validated Vischeck colour blindness simulator.
RESULTS
A total of 150 simulated images were reviewed, 50 images for each of simulated protanopia, deuteranopia and tritanopia. We found that the accuracy for staging DR and macular oedema for protanope grader were 50% and 60%, respectively. Accuracy within one stage difference for DR and macular oedema were 88% and 90%, respectively. For deuteranopes, 56% and 64% accuracy for DR and macular oedema, respectively. Accuracy within one stage difference for DR and macular oedema were 86% and 90%, respectively. For Tritanope, 62% and 84% accuracy for DR and macular oedema, respectively.
CONCLUSION
Colour vision is important for distinguishing fine details during retina assessment in diabetic retinopathy patients. Colour blindness is associated with low accuracy in staging diabetic retinopathy and macular oedema, particularly among protonopic graders, and to a lesser extent in tritanopic graders.
Topics: Color; Color Vision Defects; Cross-Sectional Studies; Diabetes Mellitus; Diabetic Retinopathy; Humans; Ophthalmologists
PubMed: 33106610
DOI: 10.1038/s41433-020-01232-z -
Clinical & Experimental Optometry Nov 2020Diagnosing colour vision deficiency is vital, owing to its impact on the choice of career and activities of daily living. Conventional screening methods require frequent...
BACKGROUND
Diagnosing colour vision deficiency is vital, owing to its impact on the choice of career and activities of daily living. Conventional screening methods require frequent replacement due to soiling of the materials, and hence are expensive and not feasible for large-scale community screening. This study aims to construct and validate a new screening tool, Dalton's pseudo-isochromatic plates (PIP), addressing the disadvantages of the conventional methods.
METHODS
The two phases of the study included the construction and validation of the Dalton's PIP. Construction involved utilising specific wavelengths based on spectral tuning, selection of numerals as targets for the chart and identification of a material with durability and resistance to wear and tear. Validation of the chart was done against the 38-plate edition of Ishihara's PIP by two masked examiners for 1,019 school children aged between 11-17 years (mean ± SD: 14 ± 2 years) as part of a school eye-health program.
RESULTS
The sensitivity and the specificity of the Dalton's PIP was found to be 94.12 per cent (95% CI 71.31-99.85) and 99.60 per cent (95% CI 98.98-99.89) respectively and the positive and negative predictive values were 80 per cent and 99.90 per cent respectively. Dalton's PIP when used with a failure criterion of less than three plates correct in two screening sets had the maximum sensitivity and specificity and the area under the curve was 0.96 (95% CI 0.90-0.99, p < 0.05).
CONCLUSION
The newly constructed Dalton's PIP is found to be a valid screening tool to detect congenital colour vision deficiency and is comparable to the Ishihara PIP. This screening tool with its shorter screening time, cost and longer durability would effectively serve in large-scale vision screening programs.
Topics: Activities of Daily Living; Adolescent; Child; Color Perception Tests; Color Vision Defects; Humans; Schools; Sensitivity and Specificity; Vision Screening
PubMed: 31845416
DOI: 10.1111/cxo.13034 -
The American Journal of Medicine May 2023
Topics: Humans; Color Vision Defects; Biomedical Research
PubMed: 36754131
DOI: 10.1016/j.amjmed.2023.01.019 -
Optics Letters Mar 2020We embed large-scale, plasmonic metasurfaces into off-the-shelf rigid gas permeable contact lenses and study their ability to serve as visual aids for color vision...
We embed large-scale, plasmonic metasurfaces into off-the-shelf rigid gas permeable contact lenses and study their ability to serve as visual aids for color vision deficiency. In this study, we specifically address deuteranomaly, which is the most common class of color vision deficiency. This condition is caused by a redshift of the medium-type cone photoreceptor and leads to ambiguity in the color perception of red and green and their combinations. The effect of the metasurface-based contact lenses on the color perception was simulated using Commission Internationale de l'Eclairage (CIE) color spaces and conventional models of the human color-sensitive photoreceptors. Comparison between normal color vision and uncorrected and corrected deuteranomaly by the proposed element demonstrates the ability offered by the nanostructured contact lens to shift back incorrectly perceived pigments closer to the original pigments. The maximal improvement in the color perception error before and after the proposed correction for deuteranomaly is up to a factor of $\sim{10}$∼10. In addition, an Ishihara-based color test was also simulated, showing the contrast restoration achieved by the element, for deuteranomaly conditions.
Topics: Coated Materials, Biocompatible; Color Perception; Color Perception Tests; Color Vision Defects; Computer Simulation; Contact Lenses; Equipment Design; Humans; Nanostructures; Optical Devices; Optical Phenomena; Sensory Aids; Spectrum Analysis; Surface Properties
PubMed: 32163975
DOI: 10.1364/OL.384970