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1.
Retina ; 44(10): 1836-1844, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39287548

RESUMO

PURPOSE: To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM. METHODS: The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study. RESULTS: Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed (P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C. CONCLUSION: The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.


Assuntos
Defeitos da Visão Cromática , Sequenciamento do Exoma , Tomografia de Coerência Óptica , Humanos , Defeitos da Visão Cromática/genética , Defeitos da Visão Cromática/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Japão/epidemiologia , Adulto , Pessoa de Meia-Idade , Criança , Adolescente , Adulto Jovem , Mutação , Linhagem , Acuidade Visual , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Fenótipo , Pré-Escolar , Proteínas do Olho/genética , Idoso , Eletrorretinografia , Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética , Análise Mutacional de DNA
2.
Optom Vis Sci ; 101(7): 477-484, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39037723

RESUMO

SIGNIFICANCE: Imposing a time limit on the Farnsworth D15 test may prevent patients from compromising the test. PURPOSE: This study aimed to investigate the effect of test time on the Farnsworth D15 color vision test in unpracticed and practiced subjects and determine an optimal test time. METHODS: Twenty-one subjects (mean/standard deviation age, 33.1/9.3 years) with a range of congenital color vision deficiency participated in the study. Pseudoisochromatic plate screening, Farnsworth D15, and anomaloscope testing were performed for classification purposes. At each of 2 visits, 10 trials of the Farnsworth D15 were performed with a range in test times from 30 seconds to 10 minutes. Between visits, subjects practiced the test. Major crossovers were used as the outcome measure. A repeated-measures analysis of variance compared the scores across trials. Post hoc Dunnett's testing analyzed the pairwise data. RESULTS: Although no significant difference in the mean number of major crossovers was found across the 10 trials for the first visit ( F (9, 180) = 1.30, p=0.24), a significant difference was found for the second visit ( F (9, 180) = 4.77, p<0.001). The range of mean number of major crossovers for the second visit was 1.71 to 5.1, with the 30-second trial resulting in the largest number of major crossovers and the longest trial resulting in the smallest number of major crossovers. Analysis showed that a 2-minute time limit resulted in a Farnsworth D15 outcome that would be expected based on the anomaloscope for a majority of subjects. CONCLUSIONS: In this study, test time was found to affect performance in practiced subjects but not in unpracticed subjects. Based on this study, we recommend enforcing a time limit of 2 minutes to discourage those who try to pass the Farnsworth D15 through practice. Additional measures, such as recording patient behavior, can also be taken.


Assuntos
Testes de Percepção de Cores , Defeitos da Visão Cromática , Humanos , Defeitos da Visão Cromática/fisiopatologia , Defeitos da Visão Cromática/diagnóstico , Adulto , Masculino , Feminino , Fatores de Tempo , Testes de Percepção de Cores/métodos , Adulto Jovem , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Percepção de Cores/fisiologia , Seguimentos , Visão de Cores/fisiologia
3.
Ophthalmic Physiol Opt ; 44(6): 1058-1071, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39031795

RESUMO

PURPOSE: To evaluate whether colour vision normal (CVN) adults pass two Fletcher-Evans (CAM) lantern tests and to investigate the impact of imposed blur on Ishihara, CAM lantern and computerised colour discrimination test (colour assessment and diagnosis test [CAD] and Cambridge colour test [CCT]) results. METHODS: In a pilot experiment, 20 (16 CVN and 4 colour vision deficient [CVD]) participants with normal VA were tested with the CAM lantern. In the main experiment, the impact of imposed dioptric blur (up to +8.00 D) on visual acuity and the Ishihara test, CAM lantern, CAD and CCT was assessed for 15 CVN participants. RESULTS: CVN participants can fail the CAM lantern, with specificity of 81.25% (aviation mode) and 75% (clinical mode), despite following the test requirements of participants having at least 0.18 logMAR (6/9) in the better eye. With blur, test accuracy was affected. As expected, significant detrimental effects of blur on test results were found for logMAR VA and CAM lantern (aviation) with +1.00 D or higher. Ishihara, CAD and CCT results were not detrimentally affected until +8.00 D. Yellow-blue discrimination was more affected by blur for the CAD than the CCT, which was not explained by the different colour spaces used or vectors tested. CONCLUSION: False-positive findings on lantern colour vision tests with small apertures are likely to be increased in patients with blur due to uncorrected refractive error or ocular and visual pathway disease. Other colour vision tests with larger stimuli are more robust to blur.


Assuntos
Testes de Percepção de Cores , Defeitos da Visão Cromática , Visão de Cores , Acuidade Visual , Humanos , Testes de Percepção de Cores/métodos , Adulto , Masculino , Feminino , Acuidade Visual/fisiologia , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/fisiopatologia , Visão de Cores/fisiologia , Adulto Jovem , Projetos Piloto , Percepção de Cores/fisiologia , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
4.
Int Ophthalmol ; 44(1): 276, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38916772

RESUMO

PURPOSE: To evaluate mesopic and photopic contrast sensitivity in patients with congenital red-green color vision deficiency regarding with and without glare conditions and to compare these findings with age- and gender-matched healthy controls with normal color vision. METHODS: Patients with congenital red-green color vision deficiency and age- and gender-matched healthy controls were included in this cross-sectional comparative study. Contrast sensitivity measurements were taken from all subjects in 4 different conditions; binocular mesopic-without glare, mesopic-with glare, photopic-without glare, photopic-with glare, and the results were compared. RESULTS: Twenty one patients with color vision deficiency (13 deuteranopic, 8 protanopic) and 22 age- and gender-matched healthy controls were included in the study. The mean age was 35.2 ± 13.5 years in the protan group, 30.6 ± 7.7 years in the deutan group, 32.0 ± 8.8 years in the control group, and there was no significant difference in age between the groups (P > 0.05). The mean mesopic and photopic contrast sensitivity values of the groups at all spatial frequencies (1.5, 3, 6, 12, 18 cpd) were not statistically significant when evaluated by the multifactor repeated measures test of ANOVA to evaluate the effect of light conditions (with and without glare) (P > .05). CONCLUSION: Mesopic and photopic contrast sensitivity values of patients with congenital red-green color vision deficiency were similar to healthy controls regarding with and without glare conditions.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Sensibilidades de Contraste , Humanos , Sensibilidades de Contraste/fisiologia , Defeitos da Visão Cromática/fisiopatologia , Defeitos da Visão Cromática/diagnóstico , Feminino , Masculino , Estudos Transversais , Adulto , Visão de Cores/fisiologia , Adulto Jovem , Pessoa de Meia-Idade , Visão Mesópica/fisiologia , Ofuscação , Acuidade Visual , Adolescente
5.
Int Ophthalmol ; 44(1): 265, 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38913194

RESUMO

BACKGROUND/AIM: Congenital color vision deficiency (CCVD) is an eye disease characterized by abnormalities in the cone cells in the photoreceptor layer. Visual evoked potentials (VEPs) are electrophysiological tests that physiologically examine the optic nerve, other visual pathways, and the visual cortex. The aim of this research was to determine whether there are VEP abnormalities in CCVD patients. METHODS: Patients with CCVD and healthy individuals were included in this prospective case-control study. Participants with eye disease or neurodegenerative disease were excluded from the study. Pattern reversal VEP (PVEP), flash VEP (FVEP), and optical coherence tomography were performed on all participants. RESULTS: Twenty healthy individuals (15 male) and 21 patients with CCVD (18 male) were included in the study. The mean ages of healthy individuals and patients with CCVD were 29.8 ± 9.6 and 31.1 ± 10.9 years (p = 0.804). Retinal nerve fiber layer thickness and central macular thickness values did not differ between the two groups. In PVEP, Right P100, Left N75, P100, N135 values were delayed in CCVD patients compared to healthy individuals (p = 0.001, p = 0.032, p = 0.003, p = 0.032). At least one PVEP and FVEP abnormality was present in nine (42.9%) and six (28.6%) of the patients, respectively. PVEP or FVEP abnormalities were found in 13 (61.9%) of the patients. CONCLUSION: This study indicated that there may be PVEP and FVEP abnormalities in patients with CCVD.


Assuntos
Defeitos da Visão Cromática , Potenciais Evocados Visuais , Tomografia de Coerência Óptica , Humanos , Potenciais Evocados Visuais/fisiologia , Masculino , Feminino , Defeitos da Visão Cromática/fisiopatologia , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/congênito , Estudos Prospectivos , Adulto , Tomografia de Coerência Óptica/métodos , Estudos de Casos e Controles , Adulto Jovem , Pessoa de Meia-Idade , Adolescente , Acuidade Visual/fisiologia
6.
Genet Med ; 25(12): 100979, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37689994

RESUMO

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.


Assuntos
Defeitos da Visão Cromática , Humanos , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Defeitos da Visão Cromática/patologia , Equorina/genética , Células Fotorreceptoras Retinianas Cones/patologia , Mutação de Sentido Incorreto/genética , Genômica , Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética
7.
Doc Ophthalmol ; 147(3): 203-209, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37642804

RESUMO

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.


Assuntos
Defeitos da Visão Cromática , Distrofia de Cones , Distrofias Retinianas , Humanos , Feminino , Distrofia de Cones/diagnóstico , Distrofia de Cones/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Eletrorretinografia , Mutação , Fenótipo , Tomografia de Coerência Óptica
8.
J Opt Soc Am A Opt Image Sci Vis ; 40(3): A208-A219, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37133039

RESUMO

The Ishihara plates test is one of the most established and widely used means of identifying color vision deficiencies. However, literature examining the effectiveness of the Ishihara plates test has identified weaknesses, particularly when screening for milder anomalous trichromacy. We constructed a model of the chromatic signals expected to contribute to false negative readings by calculating, for particular anomalous trichromatic observers, the differences in chromaticity between the ground and pseudoisochromatic portions of plates. Predicted signals from five plates were compared for seven editions of the Ishihara plates test, for six observers with three severities of anomalous trichromacy, under eight illuminants. We found significant effects of variation in all of these factors other than edition on the predicted color signals available to read the plates. The impact of edition was tested behaviorally with 35 observers with color vision deficiency and 26 normal trichromats, which corroborated the minimal effect of edition predicted by the model. We found a significant negative relationship between predicted color signals for anomalous trichromats and behavioral false negative plate readings (ρ=-0.46, p=0.005 for deuteranomals, ρ=-0.42, p=0.01 for protanomals), suggesting that residual observer-specific color signals in portions of plates designed to be isochromatic may be contributing to false negative readings, and validating our modeling approach.


Assuntos
Defeitos da Visão Cromática , Humanos , Defeitos da Visão Cromática/diagnóstico , Testes de Percepção de Cores , Percepção de Cores
9.
J Opt Soc Am A Opt Image Sci Vis ; 40(3): A9-A15, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37132997

RESUMO

Laser eye protection (LEP) devices may alter how colors are perceived in visual displays. This study investigates changes in color perception experienced by color-normal observers while wearing LEPs. Color perception with and without LEPs was measured using clinical color tests: City University Color Assessment and Diagnosis, Konan Medical ColorDx CCT-HD, and Farnsworth-Munsell 100-Hue. All LEPs induced a shift in color perception. The level of change in color perception significantly varied across LEPs. Consideration should be made when designing color displays where LEP devices are worn.


Assuntos
Percepção de Cores , Defeitos da Visão Cromática , Humanos , Defeitos da Visão Cromática/diagnóstico , Luz , Lasers , Testes de Percepção de Cores
10.
J Opt Soc Am A Opt Image Sci Vis ; 40(3): A91-A98, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37133013

RESUMO

This work expands on our previous comparison of the Konan-Waggoner D15 (KW-D15) and Farnsworth D15 (F-D15). Sixty subjects with normal color vision and 68 subjects with a red-green color vision defect participated in the study. The KW-D15 had good agreement with the F-D15 for both pass/fail and classification across all failure criteria. The agreement was slightly better if subjects had to pass on 2/3 trials compared with just the first trial. The KW-D15 is an adequate substitute for the F-D15, with the caveat that the KW-D15 might be slightly easier to pass than the F-D15 for deutans.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Humanos , Testes de Percepção de Cores , Defeitos da Visão Cromática/diagnóstico
11.
J Opt Soc Am A Opt Image Sci Vis ; 40(5): 849-858, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37133182

RESUMO

We report normative cone contrast sensitivity values, right-left eye agreement, and sensitivity and specificity values for the cone contrast test-HD (CCT-HD). We included 100 phakic eyes with color vision normal (CVN) and 20 dichromatic eyes (10 with protanopia and 10 with deuteranopia). The CCT-HD was used to measure L, M, and S-CCT-HD scores, and the right and left eyes were evaluated for agreement using Lin's concordance correlation coefficient (CCC) and Bland-Altman analysis to investigate the sensitivity and specificity of the CCT-HD based on diagnosis with an anomaloscope device. All cone types were in moderate agreement with the CCC (L-cone: 0.92, 95% CI, 0.86-0.95; M-cone: 0.91, 95% CI, 0.84-0.94; S-cone: 0.93, 95% CI, 0.88-0.96), whereas the Bland-Altman plots showed that the majority of cases (L-cone: 94%; M-cone: 92%; S-cone: 92%) fell within the 95% limits of agreement and showed good agreement. The m e a n±s t a n d a r d error L, M, and S-CCT-HD scores for protanopia were 0.6±1.4, 74.7±2.7, and 94.6±2.4, respectively; for deuteranopia, these were 84.0±3.4, 40.8±3.3, and 93.0±5.8, respectively; and for age-matched CVN eyes (m e a n±s t a n d a r d deviation age, 53.1±5.8 years; age range, 45-64 years), these were 98.5±3.4, 94.8±3.8, and 92.3±3.4, respectively, with significant differences between the groups except for S-CCT-HD score (Bonferroni corrected α=0.0167, p<0.0167). The sensitivity and specificity of the CCT-HD were 100% for protan and deutan in diagnosing abnormal types in those aged 20 to 64 years; however, the specificity decreased to 65% for protan and 55% for deutan in those aged >65 years. The CCT-HD is comparable to the diagnostic performance of the anomaloscope in the 20-64-year-old age group. However, the results should be interpreted cautiously in those ≥65 years, as these patients are more susceptible to acquired color vision deficiencies due to yellowing of the crystalline lens and other factors.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Adulto , Defeitos da Visão Cromática/diagnóstico , Testes de Percepção de Cores , Células Fotorreceptoras Retinianas Cones , Sensibilidade e Especificidade , Sensibilidades de Contraste
12.
Graefes Arch Clin Exp Ophthalmol ; 261(9): 2669-2678, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37103624

RESUMO

PURPOSE: To investigate color vision deficiency and the value of Hardy-Rand-Rittler (HRR) color plates in monitoring dysthyroid optic neuropathy (DON) to improve the diagnosis of DON. METHODS: The participants were divided into DON and non-DON (mild and moderate-to-severe) groups. All the subjects underwent HRR color examination and comprehensive ophthalmic examinations. The random forest and decision tree models based on the HRR score were constructed by R software. The ROC curve and accuracy of different models in diagnosing DON were calculated and compared. RESULTS: Thirty DON patients (57 eyes) and sixty non-DON patients (120 eyes) were enrolled. The HRR score was lower in DON patients than in non-DON patients (12.1 ± 6.2 versus 18.7 ± 1.8, p < 0.001). The major color deficiency was red-green deficiency in DON using HRR test. The HRR score, CAS, RNFL, and AP100 were found to be important factors in predicting DON from random forest and selected by decision tree to construct the multifactor model. The sensitivity, specificity, and the area under the curve (AUC) of the HRR score were 86%, 72%, and 0.87, respectively. The HRR score decision tree had a sensitivity, specificity, and AUC of 93%, 57%, and 0.75, respectively, with an accuracy of 82%. The data of the multifactor decision tree were 90%, 89%, and 0.93 for sensitivity, specificity, and AUC, respectively, with an accuracy of 91%. CONCLUSION: The HRR test was valid as screening method for DON. The multifactor decision tree based on the HRR test improved the diagnostic efficacy for DON. An HRR score of less than 12 and red-green deficiency may be characteristic of DON.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Oftalmopatia de Graves , Doenças do Nervo Óptico , Humanos , Testes de Percepção de Cores/métodos , Defeitos da Visão Cromática/diagnóstico , Curva ROC , Doenças do Nervo Óptico/diagnóstico
13.
Optom Vis Sci ; 100(2): 158-163, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36649587

RESUMO

SIGNIFICANCE: The Lanthony D15 has been reported to have poorer repeatability than the Farnsworth D15. This study found that two trials of the test provide high short-term repeatability and can be administered this way for occupational testing. PURPOSE: This study aimed to determine the short-term repeatability of the Lanthony D15 in patients with color vision deficiency. Repeated trials were used to examine if learning effects occur and to determine how many trials would be necessary to ensure the highest short-term repeatability for occupational testing. METHODS: Twenty male subjects (mean [standard deviation] age, 27.2 [4.3] years) with congenital color vision deficiency, ranging from mild to severe, participated in this single-visit study. Visual acuity, color vision book screening, Farnsworth D15, and anomaloscope testing were performed for classification purposes. Ten trials of the Lanthony D15 were performed. Color confusion index scores from each trial were determined, and a repeated-measures analysis of variance was used to compare the scores across trials. Orthogonal polynomial analysis was performed to detect any trends across trials through the third order. The intraclass correlation coefficient was calculated. RESULTS: No differences in color confusion index (mean [standard error of the mean], 3.57 [0.04]) were found across the 10 trials ( P = .18). Legendre polynomials showed no statistical significance (all P > .39). The intraclass correlation coefficient was 0.81 (95% confidence interval, 0.70 to 0.90). Based on the method of Shrout and Fleiss, intraclass correlation coefficients of 0.7, 0.8, and 0.9 could be achieved with an average of one, two, and four trials of the test, respectively. However, empirically, 0.9 was not achievable. CONCLUSIONS: The Lanthony D15 test has fairly high short-term repeatability. Thus, although more trials would likely improve clinical certainty, the mean result of two trials appears sufficient for occupational testing.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Seleção Visual , Adulto , Humanos , Masculino , Percepção de Cores , Testes de Percepção de Cores/métodos , Defeitos da Visão Cromática/diagnóstico
14.
Optom Vis Sci ; 100(12): 840-846, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38019937

RESUMO

SIGNIFICANCE: The Waggoner PIP24 is a pseudoisochromatic test with a pattern similar to the Ishihara test. This study determined that the W-PIP24 can be used clinically to yield screening results (or sensitivity and specificity) comparable with the Ishihara. PURPOSE: This study aimed to determine whether the W-PIP24 is equivalent to the Ishihara 38 edition pseudoisochromatic test in detecting red-green color vision defects. Also, the performance of each plate of the W-PIP24 in detecting the color vision defects relative to the Ishihara test was determined. METHODS: Sixty-three individuals with congenital red-green color vision defects and 57 with normal trichromacy were recruited. Participants were tested with both the Ishihara and W-PIP24. The first-order agreement coefficients were calculated for the Ishihara and W-PIP24. The results were also analyzed using specificity, sensitivity, efficiency, and predictive pass and fail values. RESULTS: The agreement between the W-PIP24 and Ishihara test using the recommended criterion of using all plates was perfect. The sensitivity, specificity, predictive pass, and predictive fail were 1.00 (95% confidence interval, 0.94 to 1.00). CONCLUSIONS: This study showed that the W-PIP24 using a failure criterion of three or more errors on screening plates 1 to 15 is equivalent to the Ishihara test while screening for red-green color vision deficiency using a failure criterion of three or more errors on screening plates 1 to 17 of the Ishihara 38 edition.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Humanos , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/congênito , Testes de Percepção de Cores/métodos , Sensibilidade e Especificidade , Percepção de Cores
15.
Ophthalmic Physiol Opt ; 43(6): 1379-1390, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37589437

RESUMO

Colour vision deficiencies (CVDs) indicate potential genetic variations and can be important biomarkers of acquired impairment in many neuro-ophthalmic diseases. However, CVDs are typically measured with tests which possess high sensitivity for detecting the presence of a CVD but do not quantify its type or severity. In this study, we introduce Foraging Interactive D-prime (FInD), a novel computer-based, generalisable, rapid, self-administered vision assessment tool and apply it to colour vision testing. This signal detection theory-based adaptive paradigm computed test stimulus intensity from d-prime analysis. Stimuli were chromatic Gaussian blobs in dynamic luminance noise, and participants clicked on cells that contained chromatic blobs (detection) or blob pairs of differing colours (discrimination). Sensitivity and repeatability of FInD colour tasks were compared against the Hardy-Rand-Rittler and the Farnsworth-Munsell 100 hue tests in 19 colour-normal and 18 inherited colour-atypical, age-matched observers. Rayleigh colour match was also completed. Detection and discrimination thresholds were higher for atypical than for typical observers, with selective threshold elevations corresponding to unique CVD types. Classifications of CVD type and severity via unsupervised machine learning confirmed functional subtypes. FInD tasks reliably detect inherited CVDs, and may serve as valuable tools in basic and clinical colour vision science.


Assuntos
Doenças Cardiovasculares , Defeitos da Visão Cromática , Visão de Cores , Humanos , Defeitos da Visão Cromática/diagnóstico , Testes Visuais , Aprendizado de Máquina , Percepção de Cores
16.
Ophthalmic Res ; 66(1): 481-488, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36634627

RESUMO

INTRODUCTION: The colour vision in bestrophinopathies has not been assessed in detail so far. The aim of this study was to explore the extent to which distinct types of bestrophinopathies differ in regard to colour vision deficiencies using Farnsworth Dichotomous D-15 and Lanthony Desaturated D-15 panel tests. METHODS: Both D-15 tests were performed in 52 eyes of 26 patients with Best vitelliform macular dystrophy (BVMD) and 10 eyes of 5 patients with autosomal recessive bestrophinopathy (ARB). Two methods were used for a quantitative assessment of the colour vision deficiencies: moment of inertia method and Bowman method. The following parameters were calculated: confusion angle, confusion index (C-index), selectivity index (S-index), total error score (TES), and colour confusion index (CCI). RESULTS: The median value of confusion angle for all stages of BVMD fell into a narrow range around 62, indicating normal results. The median confusion angle value was 57 in ARB patients within a very wide range down to -82, indicating non-specific deficits. These differences were statistically significant. Significantly abnormal C-index and CCI values were found only in ARB patients, being 2.0 and 1.49, respectively. The majority of parameters of D-15 tests were independent of the visual acuity in both bestrophinopathies. CONCLUSIONS: Elaborate evaluation of the D-15 panel tests might help establish a differential diagnosis between different bestrophinopathies, as the pattern of the colour vision loss is different between BVMD and ARB. The quantitative parameters of colour vision tests in bestrophinopathies are independent of the visual acuity.


Assuntos
Defeitos da Visão Cromática , Distrofia Macular Viteliforme , Humanos , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Bestrofinas/genética , Antagonistas de Receptores de Angiotensina , Inibidores da Enzima Conversora de Angiotensina , Tomografia de Coerência Óptica
17.
Ophthalmology ; 129(6): 708-718, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35157951

RESUMO

PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). METHODS: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. MAIN OUTCOME MEASURES: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. CONCLUSIONS: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.


Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Defeitos da Visão Cromática , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Proteínas do Citoesqueleto , Fóvea Central/anormalidades , Humanos , Proteínas de Membrana , Transtornos da Visão/diagnóstico
18.
Opt Express ; 30(6): 8857-8875, 2022 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-35299329

RESUMO

Red-green color vision deficiency (CVD) is the most common single locus genetic disorder in humans, affecting approximately 8% of males and 0.4% of females [G. H. M. Waaler, Acta Ophthalmol.5, 309 (2009)10.1111/j.1755-3768.1927.tb01016.x]; however, only about 1/4 of CVD individuals are dichromats who rely on only two cone types for color vision. The remaining 3/4 are anomalous trichromats whose CVD is milder, being based on three cone types, and who still perform remarkably well on many color-based tasks. To illustrate this, we have developed an algorithm that computes the relative loss of color discrimination in red-green CVD individuals with varying degrees of deficiency and accurately simulates their color experience for color normal observers. The resulting simulation illustrates the large gap in color discrimination between dichromats and even the most severe anomalous trichromats, showing that, relative to dichromats, the majority of anomalous trichromats can function without aids for color vision deficiency.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Algoritmos , Percepção de Cores , Defeitos da Visão Cromática/diagnóstico , Feminino , Humanos , Masculino , Células Fotorreceptoras Retinianas Cones
19.
Opt Express ; 30(8): 13699-13713, 2022 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-35472977

RESUMO

There is a belief that observers with color vision deficiencies (CVD) perform better in detecting camouflaged objects than normal observers. Some studies have concluded contradictory findings when studying the performance of normal and CVD observers in the camouflage detection tasks in different conditions. This work presents a literature review on this topic, dividing it into three different and contradictory types of results: better performance for CVD, for normal observers, or same performance. Besides, two psychophysical experiments have been designed and carried out in a calibrated computer monitor on both normal and CVD human observers to measure the searching times of the different types of observers needed to find camouflaged stimuli in two different types of stimuli. Results show the trend that, in our experimental conditions, normal observers need shorter searching times than CVD observers in finding camouflaged stimuli both in images of natural scenes and in images with synthetic stimuli.


Assuntos
Doenças Cardiovasculares , Defeitos da Visão Cromática , Defeitos da Visão Cromática/diagnóstico , Humanos
20.
Opt Express ; 30(15): 27903-27911, 2022 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-36236949

RESUMO

Optical filter aids are marketed which claim to improve colour discrimination in red-green colour vision defectives. An earlier model has been revised and used to assess 9 currently available aids. Spectral reflectances (400-700 nm) for 80 colours equally spaced in hue angle at four equally spaced saturations were synthesised from chromatically adjacent Munsell colours. Aid induced chromaticity changes for Protanomals and Deuteranomals were calculated. Five aids enhanced red-green discrimination significantly for Protanomals and six for Deuteranomals and one aid reduced it significantly for both defectives. Five aids enhanced blue-yellow discrimination in Protanomals and Deuteranomals for whom it is not needed.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Percepção de Cores , Defeitos da Visão Cromática/diagnóstico , Humanos
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