Search results for "Color Vision Defects"
showing 10 items of 13 documents
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
A comparison among different techniques for human ERG signals processing and classification
2014
A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
2019
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…
Blue-yellow deficiency in workers exposed to low concentrations of organic solvents
1997
Objectives: To evaluate the effects of low concentrations of organic solvents on color vision. Methods: Color vision was examined in 24 workers exposed to mixtures of solvents and in 24 control subjects. Exposure to mixtures was below the threshold-limit values. Color vision ability was assessed using the Ishihara plates (to screen for congenital dyschromatopsia), the Farnsworth panel D-15 test, the Lanthony desaturated panel D-15 test, and the Standard Pseudoisochromatic Plates part 2 (SPP2 test). Results: The comparatively less sensitive Farnsworth panel D-15 test failed to show any difference between the groups, but the Lanthony panel D-15 desaturated test as well as the SPP2 test showed…
Vision evaluation in people with Down's syndrome.
1994
We tested the colour vision of 72 people with Down's syndrome using the Ishihara test and an anomaloscope. We found that 13 of the subjects, 6 males and 7 females, had defective colour vision according to Pickford's classification. In monocular vision 10 eyes were protan (five simple, three extreme and two deviant), one eye was simple deuteranomalous and the remaining eyes were normal: in binocular vision four of the subjects were protan (two simple and two deviant), two subjects were deutan (one simple and one deviant) and the rest were normal. Many of our subjects had lens opacities, strabismus, nystagmus, hypermetropia, high myopia and astigmatism, confirming literature reports. The cont…
Optimizing colormaps with consideration for color vision deficiency to enable accurate interpretation of scientific data
2018
Color vision deficiency (CVD) affects more than 4% of the population and leads to a different visual perception of colors. Though this has been known for decades, colormaps with many colors across the visual spectra are often used to represent data, leading to the potential for misinterpretation or difficulty with interpretation by someone with this deficiency. Until the creation of the module presented here, there were no colormaps mathematically optimized for CVD using modern color appearance models. While there have been some attempts to make aesthetically pleasing or subjectively tolerable colormaps for those with CVD, our goal was to make optimized colormaps for the most accurate perce…
A Tunable Digital Ishihara Plate for Pre-School Aged Children
2016
Colors play a fundamental role for children, both in the everyday life and in education. They recognize the surrounding world, and play games making a large use of colors. They learn letters and numbers by means of colors. As a consequence, early diagnosis of color blindness is an crucial to support an individual affected by this visual perception alteration at the initial phase of his/her life. The diagnosis of red-green color deficiencies (protanopia or deuteranopia) is commonly accomplished by means of the Ishihara test, which consists of plates showing dots with different sizes where some of them compose numbers within a gamut of colors while the ones composing the background have diffe…
Wavelength dependence of the optomotor response in zebrafish (Danio rerio)
2003
Abstract The action spectrum of motion detection in zebrafish (Danio rerio) was measured using the optomotor response in the light adapted state. The function has a single maximum at 550–600 nm, and is similar to the spectral sensitivity function of the L-cone type in the mid and long wavelength range. At shorter wavelengths the values of three of the five fish tested are lower. As in goldfish [Vis. Res. 36 (1996) 4025], the result indicates a dominance of the L-cone type with an inhibitory influence of M- or S-cones. Experiments with a red/green striped cylinder showed that the optomotor response was at minimum whenever the L-cone type was not modulated by the moving pattern. This demonstr…
New iPAD-based test for the detection of color vision deficiencies.
2018
Purpose: To develop and validate a new iPad-based color vision test (Optopad). Methods: A total of 341 student eyes were enrolled in a first comparative study between Optopad and the Isihara tests. In a second comparative study, Optopad vs. the Farnworth-Munsell test (FM 100H), a total of 66 adult eyes were included. Besides the agreement between tests, the correlation between FM 100H and Optopad outcomes were investigated. Multiple regression analysis was used to predict the total error score (TES) from contrast thresholds measured with the Optopad test. Results: The Ishihara and Optopad tests detected the same anomalous patients. Concerning FM 100H vs. Optopad, 10 subjects were diagnosed …