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1.
Invest Ophthalmol Vis Sci ; 61(3): 40, 2020 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-32203983

RESUMO

Purpose: The purpose of this study was to report GNAT2-associated achromatopsia (GNAT2-ACHM) natural history, characterize photoreceptor mosaic, and determine a therapeutic window for potential intervention. Methods: Patients with GNAT2-ACHM were recruited from a single tertiary referral eye center (Moorfields Eye Hospital, London, UK). We performed longitudinal clinical evaluation and ophthalmic examination, and multimodal retinal imaging, including adaptive optics scanning light ophthalmoscopy, quantitative analysis of the cone mosaic, and outer nuclear layer (ONL) thickness, including cone densities evaluation in selected regions of interest and comparison with reported healthy controls. Results: All nine subjects (3 women) presented with nystagmus, decreased visual acuity (VA), light sensitivity, and highly variable color vision loss. One patient had normal color vision and better VA. Mean VA was 1.01 (±0.10) logarithms of the minimal angle of resolution (LogMAR) at baseline, and 1.04 (±0.10) LogMAR after a mean follow-up (range) of 7.6 years (1.7-12.8 years). Optical coherence tomography showed preservation of the foveal ellipsoid zone (EZ; n = 8; 88.9%), and EZ disruption (n = 1; 11.1%). Mean ONL thickness (range, ± SD) was 84.72 µm (28.57-113.33, ± 25.46 µm) and 86.47 µm (28.57-113.33, ± 24.65 µm) for right and left eyes, respectively. Mean cone densities (±SD) at 190 µm, 350 µm, and 500 µm from the foveal center, were 48.4 (±24.6), 37.8 (±14.7), and 30.7 (±9.9), ×103 cones/mm2, respectively. Mean cone densities were lower than these of unaffected individuals, but with an overlap. Conclusions: The cone mosaic in GNAT2-ACHM is relatively well preserved, potentially allowing for a wide therapeutic window for cone-directed interventions.


Assuntos
Defeitos da Visão Cromática/genética , Defeitos da Visão Cromática/patologia , Subunidades gama da Proteína de Ligação ao GTP/genética , Células Fotorreceptoras Retinianas Cones/patologia , Adolescente , Adulto , Criança , Testes de Percepção de Cores , Eletrorretinografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Nistagmo Patológico/diagnóstico , Oftalmoscopia , Imagem Óptica , Linhagem , Fenótipo , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Adulto Jovem
2.
J Dent Educ ; 84(6): 688-694, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32077503

RESUMO

OBJECTIVE: The purpose of this study was to determine if there is an association between Perceptual Ability Test (PAT) results and color vision deficiency (CVD). METHODS: Three consecutive classes of first-year dental students (n = 291) voluntarily participated in the study. The Farnsworth-Munsell 100 Hue Color Vision test (FM-100) was administered to students beneath a Macbeth Judge II viewing booth that provided ideal lighting conditions to ascertain CVD. Results of FM-100 test were recorded as total error scores (TES). Color acuity was scored as superior (TES 0-16), average (TES 20-100), or poor (TES > 100). Additional information of age, sex, ethnicity, and time to complete the FM-100 was obtained. Multiple linear regression was used to determine the association between PAT and CVD while adjusting for age, sex, ethnicity, and time to complete the FM-100 test. RESULTS: TES ranged from 0-244. There were 132 students with superior color acuity, 161 with average, and eight with poor acuity. Females performed better than males on the FM-100 test. Time to complete the FM-100 test ranged from 3:40 minutes to 25:12 minutes. There was a strong relationship between PAT scores and CVD (P = 0.0003). A 1-unit increase in PAT scores was found to result in a 9% decrease in TES; indicating that students with higher PAT scores are less likely to have CVD. CONCLUSION: The PAT may be a preliminary screening instrument to identify students who may have CVD. The FM-100 test can then confirm the presence of CVD. Students with CVD may desire to improve dental shade matching skills through targeted training and education.


Assuntos
Defeitos da Visão Cromática , Visão de Cores , Cor , Percepção de Cores , Testes de Percepção de Cores , Feminino , Humanos , Masculino
3.
Ophthalmology ; 127(4): 492-500, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31937464

RESUMO

PURPOSE: To evaluate structural grading and quantitative segmentation of foveal hypoplasia using handheld OCT, versus preferential looking (PL), as predictors of future vision in preverbal children with infantile nystagmus. DESIGN: Longitudinal cohort study. PARTICIPANTS: Forty-two patients with infantile nystagmus (19 with albinism, 17 with idiopathic infantile nystagmus, and 6 with achromatopsia) were examined. METHODS: Spectral-domain handheld OCT was performed in preverbal children up to 36 months of age. Foveal tomograms were graded using our 6-point grading system for foveal hypoplasia and were segmented for quantitative analysis: photoreceptor length, outer segment (OS) length, and foveal developmental index (FDI; a ratio of inner layers versus total foveal thickness). Patients were followed up until they could perform chart visual acuity (VA) testing. Data were analyzed using linear mixed regression models. Visual acuity predicted by foveal grading was compared with prediction by PL, the current gold standard for visual assessment in infants and young children. MAIN OUTCOME MEASURES: Grade of foveal hypoplasia, quantitative parameters (photoreceptor length, OS length, FDI), and PL VA were obtained in preverbal children for comparison with future chart VA outcomes. RESULTS: We imaged 81 eyes from 42 patients with infantile nystagmus of mean age 19.8 months (range, 0.9-33.4 months; standard deviation [SD], 9.4 months) at the first handheld OCT scan. Mean follow-up was 44.1 months (range, 18.4-63.2 months; SD, 12.0 months). Structural grading was the strongest predictor of future VA (grading: r = 0.80, F = 67.49, P < 0.0001) compared with quantitative measures (FDI: r = 0.74, F = 28.81, P < 0.001; OS length: r = 0.65; F = 7.94, P < 0.008; photoreceptor length: r = 0.65; F = 7.94, P < 0.008). Preferential looking was inferior to VA prediction by foveal grading (PL: r = 0.42, F = 3.12, P < 0.03). CONCLUSIONS: Handheld OCT can predict future VA in infantile nystagmus. Structural grading is a better predictor of future VA than quantitative segmentation and PL testing. Predicting future vision may avert parental anxiety and may optimize childhood development.


Assuntos
Anormalidades do Olho/patologia , Fóvea Central/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Nistagmo Congênito/diagnóstico , Transtornos da Visão/diagnóstico , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/fisiopatologia , Pré-Escolar , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/fisiopatologia , Anormalidades do Olho/classificação , Feminino , Seguimentos , Fóvea Central/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Lactente , Estudos Longitudinais , Masculino , Nistagmo Congênito/fisiopatologia , Estudos Prospectivos , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia
4.
J Glaucoma ; 29(2): 117-123, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31821182

RESUMO

PRECIS: Pediatric glaucoma referral to neuro-ophthalmology has a high yield for diagnosing neurological disease and neuroimaging in this cohort often uncovers intracranial abnormalities. PURPOSE: Multiple studies have examined the utility of neuro-ophthalmology referrals in an adult glaucoma patient population. No similar studies in the pediatric glaucoma population have been completed. An analysis of pediatric referral patterns and clinical characteristics can serve to guide future physician referrals and improve patient outcomes. MATERIALS AND METHODS: A retrospective review of medical records was conducted to identify pediatric patients evaluated by both glaucoma and neuro-ophthalmology services at Bascom Palmer Eye Institute from January 2013 to August 2018. Records were reviewed for clinical examination findings, demographics, ophthalmic imaging, neuroimaging, and ultimate diagnosis. RESULTS: A total of 59 patients, average age 10 years old, were included for analysis. The majority of patients were referred from pediatric glaucoma to neuro-ophthalmology (n=52, 88.1%). The most common reasons for referral included suspected nonglaucomatous optic neuropathy (n=14), optic disc swelling (n=7), color vision deficiency (n=6), and nonglaucomatous visual field defect (n=4). Referral to neuro-ophthalmology resulted in neuro-imaging in 22 patients (22/52, 42.3%), with 7 patients (7/52, 13.7%) having pathology on the scan. Ultimately, 38 patients (73.1%) referred to neuro-ophthalmology had an ultimate diagnosis unrelated to glaucoma. Color vision abnormality, optic nerve pallor, and/or retinal nerve fiber layer <70 µm in at least 1 eye were associated with a diagnosis unrelated to glaucoma. Of the 7 patients referred from neuro-ophthalmology to pediatric glaucoma, none were diagnosed with glaucoma or started on intraocular pressure lowering therapy. CONCLUSIONS: Patients referred from pediatric glaucoma to neuro-ophthalmology often have nonglaucomatous disease requiring subspecialty evaluation and neuroimaging. Neuroimaging in this cohort is high yield for uncovering intracranial pathology.


Assuntos
Defeitos da Visão Cromática/diagnóstico , Glaucoma/diagnóstico , Doenças do Nervo Óptico/diagnóstico , Transtornos da Visão/diagnóstico , Campos Visuais/fisiologia , Anti-Hipertensivos/uso terapêutico , Criança , Feminino , Glaucoma/tratamento farmacológico , Humanos , Pressão Intraocular/efeitos dos fármacos , Imagem por Ressonância Magnética , Masculino , Oftalmologia , Pediatria , Prática Profissional , Encaminhamento e Consulta , Estudos Retrospectivos , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Testes de Campo Visual
5.
Invest Ophthalmol Vis Sci ; 60(15): 5112-5123, 2019 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-31826238

RESUMO

Purpose: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. Methods: Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical coherence tomography. Six subjects also had confocal and nonconfocal adaptive optics scanning light ophthalmoscopy, axial length, international standard pattern and full-field electroretinography (ERG), short-wavelength flash (S-cone) ERGs, and color vision testing. Results: All subjects presented with early-onset nystagmus, decreased best-corrected visual acuity, light sensitivity, and severe color vision loss, and five of them had high myopia. We identified three novel disease-causing variants and provide phenotype data associated with nine variants for the first time. No subjects had foveal hypoplasia or residual ellipsoid zone (EZ) at the foveal center; one had an absent EZ, three had a hyporeflective zone, and four had outer retinal atrophy. The mean width of the central EZ lesion on optical coherence tomography at baseline was 1923 µm. The mean annual increase in EZ lesion size was 48.3 µm. Fundus autofluorescence revealed a central hypoautofluorescence with a surrounding ring of increased signal (n = 5). The mean hypoautofluorescent area at baseline was 3.33 mm2 and increased in size by a mean of 0.13 mm2/year. Nonconfocal adaptive optics scanning light ophthalmoscopy revealed residual foveal cones in only one of two cases. Full-field ERGs were consistent with severe generalized cone system dysfunction but with relative preservation of S-cone sensitivity. Conclusions: PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. Myopia and slowly progressive maculopathy are common features. There are few (if any) residual foveal cones for intervention in older adults.


Assuntos
Defeitos da Visão Cromática/genética , Visão de Cores/fisiologia , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Proteínas do Olho/genética , Acuidade Visual , Adolescente , Adulto , Criança , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/metabolismo , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/metabolismo , Eletrorretinografia , Proteínas do Olho/metabolismo , Feminino , Seguimentos , Previsões , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Fenótipo , Tomografia de Coerência Óptica/métodos , Adulto Jovem
6.
Tunis Med ; 97(5): 716-721, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31729746

RESUMO

AIM: the interest of the OCT spectral Domain for the diagnosis of the acromatopsia. CASE REPORT:   It's about 2 brothers consulting for low vision. The big brother, has a vision of 1/ 20 in two eyes. The anterior segment and the fundus examination were normals. The OCT SD shows a disappearance of the ellipsoid line in the macular region with an optic hole. The Global ERG has demonstrated flat plots in photopic component and normal in scotopic component. The ishihara test has showed an absence of the chromatic sense. The acromatopsia was the selected diagnosis.  The exam of the second brother showed a visual acuity limited 1/20 in the right eye and counting finger in the left eye, associated to photophobia and nystagmus. The OCT and global ERG gave the same results. CONCLUSION: The typical clinical picture with the ERG's data gave the diagnosis of the acromatopsia. An early diagnosis is necessary for a suitable life of the patient and genetic consulting. This paper demonstrated the importance of the OCT SD for the diagnosis when it's correclated to the clinic.


Assuntos
Defeitos da Visão Cromática/diagnóstico por imagem , Tomografia de Coerência Óptica , Adolescente , Humanos , Masculino
7.
Optom Vis Sci ; 96(11): 866-873, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31688694

RESUMO

SIGNIFICANCE: Large differences in failure rates for color vision screening have been reported among different regional groups. However, color vision deficiency prevalence in Korea has only been investigated within a small area of the country. PURPOSE: This study examines the prevalence of failing a color vision screening and its sex-related differences using a sample that is representative of the whole Korean population. METHODS: This population-based cross-sectional study evaluated 2686 subjects (age, 19 to 49 years) who participated in the sixth Korea National Health and Nutrition Examination Survey (2013). Color vision deficiency was assessed using the Hardy-Rand-Rittler (HRR) test by an ophthalmologist. According to standard criteria for the HRR, it classified each subject as color normal, protan, deutan, tritan, or unclassified color vision loss. All participants had comprehensive medical evaluations and ocular history taken. RESULTS: The weighted overall prevalence of color vision deficiency in the Korean population was 3.9% (95% confidence interval, 3.0 to 5.4%). The prevalence of color vision deficiency was higher in male participants (6.5%) than in female participants (1.1%). Among all participants, deutan deficiency (2.5%) had a higher prevalence than did protan deficiency (0.4%). For male participants who failed the HRR screening, deutan-type deficiency was detected most often (64.2%), whereas an unclassified color vision deficiency type was the most common (52.9%) among female participants who failed the HRR screening. As expected, male participants were more likely to fail the HRR screening compared with female participants (prevalence ratio, 6.08; 95% confidence interval, 3.61 to 10.26). CONCLUSIONS: This large population-based study of color vision deficiency among Koreans gives the most accurate estimate of failing a color vision screening test to date and provides useful information for planning adaptive strategies.


Assuntos
Defeitos da Visão Cromática/epidemiologia , Adulto , Distribuição por Idade , Testes de Percepção de Cores , Visão de Cores , Defeitos da Visão Cromática/diagnóstico , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , Prevalência , República da Coreia/epidemiologia , Distribuição por Sexo , Seleção Visual , Adulto Jovem
8.
Middle East Afr J Ophthalmol ; 26(3): 133-137, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31619899

RESUMO

PURPOSE: To estimate the magnitude and determinants of color vision defects (CVD) among preparatory health science students. METHODS: A cross-sectional survey was conducted in 2017. Participants were assessed using 24-plate Ishihara's Test of Color Vision chart. If ≤9 plates were read correctly, the color vision was regarded as deficient. The CVD prevalence and its 95% confidence interval (CI) were calculated. CVD was associated with gender, family history of CVD, and other vision problems. RESULTS: We evaluated 1126 students (552, 49% males; mean age: 18.7 ± 0.7 years). The prevalence of CVD was 1.77% (95% CI: 1.0, 2.6). Among male students, it was 3.5% (95% CI: 1.9, 5.0). Only one female student had CVD. The Duran CVD was found in 18 (1.6%) students. However, only two students had Tritan CVD. Three among twenty CVD students knew that they suffer from CVD. CVD was positively associated to a family history of CVD (odds ratio [OR] = 3.8; 95% CI: 1.4, 10.1;P = 0.02) and male gender (OR = 20.4 [95% CI: 2.7, 153]). CVD was not significantly associated to other vision problems (OR = 0.8 [95% CI: 0.3, 2.0]). CONCLUSION: Eighteen in thousand health sciences students suffered from CVD. Ten percent of them had Tritan CVD. Duran CVD seems to be a male sex-related and/or a familial condition. Most of the CVD students seem to have adopted to this defect and were not aware of suffering from it. Screening for CVD is therefore debatable.


Assuntos
Defeitos da Visão Cromática/epidemiologia , Adolescente , Testes de Percepção de Cores , Defeitos da Visão Cromática/diagnóstico , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Arábia Saudita/epidemiologia , Estudantes , Inquéritos e Questionários , Universidades , Adulto Jovem
9.
Afr Health Sci ; 19(2): 2230-2236, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31656508

RESUMO

Background: Congenital colour vision defects are x-linked inherited, non-progressive and untreatable disorders that describe poor colour discrimination. Objective: To determine the prevalence of congenital colour vision deficiency among students in Lagos, Nigeria. Methods: A school-based cross-sectional, cluster sample study was conducted to test the colour vision of 2326 primary and high school students. Inclusion criteria were Snellen VA 20/20 or better and absence of known ocular pathologies. Colour vision deficiency (CVD) was evaluated with the Richmond-HRR colour vision test plates. Results: There were 1014 (43.6%) males and 1312 (56.4%) females with a mean age of 13.40 ± 2.40 years (range = 7-22 years). The prevalence of CVD was 58 (2.5%), which was higher in males 49 (4.8%) than females 9 (0.7%). The prevalence of congenital CVD was significantly associated with males (p = 0.00), but not with females (p = 0.22). Of the 58 cases of CVD, 17 (0.7%) had protan deficiency, 38 (1.6%) had deutan deficiency and three (0.1%) were unclassified. Conclusion: The prevalence of congenital CVD among students in Lagos is comparable to findings in other parts of Nigeria but differs from other parts of the country. These results strengthen the need to establish school vision screening.


Assuntos
Defeitos da Visão Cromática/epidemiologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Nigéria/epidemiologia , Prevalência , Adulto Jovem
10.
Stem Cell Res ; 40: 101569, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31520890

RESUMO

Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fibroblasts from a patient with incomplete ACHM were reprogrammed to iPSCs by the non-integrative Sendai-virus method. Finally, the iPSC line has been characterized expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.


Assuntos
Linhagem Celular/citologia , Defeitos da Visão Cromática/genética , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Proteínas do Olho/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Células-Tronco Pluripotentes Induzidas/metabolismo , Adulto , Diferenciação Celular , Linhagem Celular/metabolismo , Células Cultivadas , Defeitos da Visão Cromática/metabolismo , Defeitos da Visão Cromática/fisiopatologia , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/metabolismo , Proteínas do Olho/metabolismo , Fibroblastos/citologia , Fibroblastos/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Homozigoto , Humanos , Células-Tronco Pluripotentes Induzidas/citologia , Masculino , Mutação
11.
Optom Vis Sci ; 96(9): 695-705, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31479025

RESUMO

SIGNIFICANCE: Clinicians who administer the Farnsworth-Munsell D-15 test need to pay attention to the quality and quantity of lighting and the time that they allow for completion of the test, and all repeat attempts need to be included in reports on compliance with color vision standards. PURPOSE: The validity of the Farnsworth-Munsell D-15 has been questioned because practice may allow significantly color vision-deficient subjects to pass. In this article, we review the influence of practice and other factors that may affect the performance. These relate to both the design and the administration of the test. METHODS: We review the literature and present some calculations on limitations in the colorimetric design of the test, quantity and quality of lighting, time taken, and repeat attempts. RESULTS: In addition to the review of the literature, color differences and luminance differences under selected sources are calculated, and the increases in luminance clues under some sources and for protanopes are illustrated. CONCLUSIONS: All these factors affect the outcome of the test and need specification and implementation if the test is to be applied consistently and equitably. We recommend the following: practitioners should never rely on a single color vision test regardless of the color vision standard; lighting should be Tcp '' 6500 K and Ra > 90; illuminance levels should be between 200 and 300 lux if detection of color vision deficiency is a priority or between 300 and 1000 lux if the need is to test at the level where illuminance has minimal influence on performance; illuminance should be reported; time limits should be set between 1 and 2 minutes; repeat testing (beyond the specified test and one retest) should be carried out only with authorization; and initial and repeated results should be reported. A set of test instructions to assist in the consistent application of the test is provided in the Appendix.


Assuntos
Testes de Percepção de Cores/métodos , Testes de Percepção de Cores/normas , Defeitos da Visão Cromática/diagnóstico , Adulto , Algoritmos , Visão de Cores/fisiologia , Defeitos da Visão Cromática/fisiopatologia , Colorimetria , Humanos , Iluminação , Masculino
12.
Invest Ophthalmol Vis Sci ; 60(10): 3644-3651, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31469404

RESUMO

Purpose: Previously we showed that AAV5-mediated expression of either human M- or L-opsin promoted regrowth of cone outer segments and rescued M-cone function in the treated M-opsin knockout (Opn1mw-/-) dorsal retina. In this study, we determined cone viability and window of treatability in aged Opn1mw-/- mice. Methods: Cone viability was assessed with antibody against cone arrestin and peanut agglutinin (PNA) staining. The rate of cone degeneration in Opn1mw-/- mice was quantified by PNA staining. AAV5 vector expressing human L-opsin was injected subretinally into one eye of Opn1mw-/- mice at 1, 7, and 15 months old, while the contralateral eyes served as controls. M-cone-mediated retinal function was analyzed 2 and 13 months postinjection by full-field ERG. L-opsin transgene expression and cone outer segment structure were examined by immunohistochemistry. Results: We showed that dorsal M-opsin dominant cones exhibit outer segment degeneration at an early age in Opn1mw-/- mice, whereas ventral S-opsin dominant cones were normal. The remaining M-opsin dominant cones remained viable for at least 15 months, albeit having shortened or no outer segments. We also showed that AAV5-mediated expression of human L-opsin was still able to rescue function and outer segment structure in the remaining M-opsin dominant cones when treatment was initiated at 15 months of age. Conclusions: Our results showing that the remaining M-opsin dominant cones in aged Opn1mw-/- mice can still be rescued by gene therapy is helpful for establishing the window of treatability in future blue cone monochromacy clinical trials.


Assuntos
Defeitos da Visão Cromática/terapia , Terapia Genética/métodos , Células Fotorreceptoras Retinianas Cones/fisiologia , Opsinas de Bastonetes/genética , Opsinas de Bastonetes/fisiologia , Envelhecimento/fisiologia , Animais , Arrestinas/genética , Defeitos da Visão Cromática/genética , Defeitos da Visão Cromática/fisiopatologia , Modelos Animais de Doenças , Eletrorretinografia , Regulação da Expressão Gênica/fisiologia , Vetores Genéticos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Parvovirinae/genética , Retina/fisiopatologia
13.
Invest Ophthalmol Vis Sci ; 60(10): 3432-3446, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31390656

RESUMO

Purpose: Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). Methods: Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed. Results: There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6-23 years) and that at the time of examination was 40.3 years (range, 22-67 years). The best-corrected visual acuity ranged from -0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases. Conclusions: Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.


Assuntos
Proteínas de Ciclo Celular/genética , Defeitos da Visão Cromática/genética , Distrofia de Cones/genética , Mutação , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Coortes , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/fisiopatologia , Distrofia de Cones/diagnóstico , Distrofia de Cones/fisiopatologia , Eletrorretinografia , Feminino , Angiofluoresceinografia , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Retinite Pigmentosa/diagnóstico , Retinite Pigmentosa/genética , Retinite Pigmentosa/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Testes de Campo Visual , Campos Visuais/fisiologia , Sequenciamento Completo do Exoma , Adulto Jovem
15.
Opt Express ; 27(13): 17954-17967, 2019 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-31252746

RESUMO

In our ongoing research on the effectiveness of different passive tools for aiding Color Vision Deficiency (CVD) subjects, we have analyzed the VINO 02 Amp Oxy-Iso glasses using two strategies: 1) 52 observers were studied using four color tests (recognition, arrangement, discrimination, and color-naming); 2) the spectral transmittance of the lenses were used to model the color appearance of natural scenes for different simulated CVD subjects. We have also compared VINO and EnChroma glasses. The spectral transmission of the VINO glasses significantly changed color appearance. This change would allow some CVD subjects, above all the deutan ones, to be able to pass recognition tests but not the arrangement tests. To sum up, our results support the hypothesis that glasses with filters are unable to effectively resolve the problems related to color vision deficiency.


Assuntos
Defeitos da Visão Cromática/terapia , Óptica e Fotônica/instrumentação , Adolescente , Adulto , Criança , Cor , Simulação por Computador , Feminino , Vidro/química , Humanos , Masculino , Pessoa de Meia-Idade
16.
Invest Ophthalmol Vis Sci ; 60(7): 2631-2640, 2019 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-31237654

RESUMO

Purpose: Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM is a structurally distinct form of congenital ACHM. Methods: Seven genetically confirmed subjects from five nonconsanguineous families were recruited. Foveal hypoplasia and the integrity of the ellipsoid zone (EZ) band (a.k.a., IS/OS) were graded from optical coherence tomography (OCT) images. Images of the photoreceptor mosaic were acquired using confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO). Parafoveal cone and rod density values were calculated and compared to published normative data as well as data from two subjects harboring CNGA3 or CNGB3 mutations who were recruited for comparative purposes. Additionally, nonconfocal dark-field AOSLO images of the retinal pigment epithelium were obtained, with quantitative analysis performed in one subject with ATF6-ACHM. Results: Foveal hypoplasia was observed in all subjects with ATF6 mutations. Absence of the EZ band within the foveal region (grade 3) or appearance of a hyporeflective zone (grade 4) was seen in all subjects with ATF6 using OCT. There was no evidence of remnant foveal cone structure using confocal AOSLO, although sporadic cone-like structures were seen in nonconfocal split-detection AOSLO. There was a lack of cone structure in the parafovea, in direct contrast to previous reports. Conclusions: Our data demonstrate a near absence of cone structure in subjects harboring ATF6 mutations. This implicates ATF6 as having a major role in cone development and suggests that at least a subset of subjects with ATF6-ACHM have markedly fewer cellular targets for cone-directed gene therapies than do subjects with CNGA3- or CNGB3-ACHM.


Assuntos
Fator 6 Ativador da Transcrição/genética , Defeitos da Visão Cromática/genética , Fóvea Central/anormalidades , Mutação , Células Fotorreceptoras Retinianas Cones/patologia , Adolescente , Adulto , Criança , Defeitos da Visão Cromática/diagnóstico por imagem , Defeitos da Visão Cromática/patologia , Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética , Eletrorretinografia , Feminino , Fóvea Central/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Epitélio Pigmentado da Retina/diagnóstico por imagem , Epitélio Pigmentado da Retina/patologia , Células Fotorreceptoras Retinianas Bastonetes/patologia , Tomografia de Coerência Óptica , Acuidade Visual
17.
Nat Commun ; 10(1): 2407, 2019 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-31160592

RESUMO

The senses play critical roles in helping animals evaluate foods, including fruits that can change both in colour and scent during ripening to attract frugivores. Although numerous studies have assessed the impact of colour on fruit selection, comparatively little is known about fruit scent and how olfactory and visual data are integrated during foraging. We combine 25 months of behavioural data on 75 wild, white-faced capuchins (Cebus imitator) with measurements of fruit colours and scents from 18 dietary plant species. We show that frequency of fruit-directed olfactory behaviour is positively correlated with increases in the volume of fruit odours produced during ripening. Monkeys with red-green colour blindness sniffed fruits more often, indicating that increased reliance on olfaction is a behavioural strategy that mitigates decreased capacity to detect red-green colour contrast. These results demonstrate a complex interaction among fruit traits, sensory capacities and foraging strategies, which help explain variation in primate behaviour.


Assuntos
Comportamento Animal/fisiologia , Defeitos da Visão Cromática/fisiopatologia , Visão de Cores/fisiologia , Preferências Alimentares/fisiologia , Frutas , Olfato/fisiologia , Animais , Cebus , Odorantes
18.
Invest Ophthalmol Vis Sci ; 60(7): 2551-2562, 2019 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-31212307

RESUMO

Purpose: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional improvement. Methods: Patients with RP (n = 20) and LCA due to CEP290 (n = 12) or NPHP5 (n = 6) mutations were studied. A patient with CEP290 mutations but mild retinal degeneration was included. RP patients had cone-mediated macular function. A machine learning technique was used to associate perimetric sensitivities to local structure in RP patients. Models trained on RP data were applied to predict visual function in LCA. Results: The RP and LCA patients had comparable retinal structure. RP patients had peak sensitivity at the fovea surrounded by decreasing sensitivity. Machine learning could successfully predict perimetry results from segmented or unsegmented optical coherence tomography (OCT) input. Application of machine learning predictions to LCA within the residual macular island of photoreceptor structure showed differences between predicted and measured sensitivities defining treatment potential. In patients with retained vision, the treatment potential was 4.6 ± 2.9 dB at the fovea but 16.4 ± 4.4 dB at the parafovea. In patients with limited or no vision, the treatment potential was 17.6 ± 9.4 dB. Conclusions: Cone vision improvement potential in LCA due to CEP290 or NPHP5 mutations is predictable from retinal structure using a machine learning approach. This should allow individual prediction of the maximal efficacy in clinical trials and guide decisions about dosing. Similar strategies can be used in other retinal degenerations to estimate the extent and location of treatment potential.


Assuntos
Antígenos de Neoplasias/genética , Proteínas de Ligação a Calmodulina/genética , Defeitos da Visão Cromática/terapia , Amaurose Congênita de Leber/genética , Amaurose Congênita de Leber/terapia , Aprendizado de Máquina , Proteínas de Neoplasias/genética , Células Fotorreceptoras Retinianas Cones/fisiologia , Adolescente , Adulto , Defeitos da Visão Cromática/genética , Feminino , Terapia Genética , Humanos , Amaurose Congênita de Leber/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação , Retinite Pigmentosa/genética , Retinite Pigmentosa/fisiopatologia , Retinite Pigmentosa/terapia , Tomografia de Coerência Óptica/métodos , Testes de Campo Visual , Campos Visuais/fisiologia , Adulto Jovem
19.
BMC Res Notes ; 12(1): 324, 2019 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-31182158

RESUMO

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.


Assuntos
Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/epidemiologia , Adolescente , Criança , Cidades , Testes de Percepção de Cores , Defeitos da Visão Cromática/fisiopatologia , Feminino , Humanos , Masculino , Prevalência , Refração Ocular/fisiologia , Retinoscopia , Instituições Acadêmicas , Fatores Sexuais , África do Sul/epidemiologia , Acuidade Visual/fisiologia
20.
Neurol Sci ; 40(9): 1939-1942, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31054066

RESUMO

The present pilot study was undertaken to investigate the impaired acquired color vision on Calabrian male sample showing this parameter as a biological marker in type 2 diabetes. All patients and controls underwent three pseudo-isochromatic clinical test batteries: Ishihara test, Farnsworth test, and City University test. The results show a specific loss of short-wavelength (blue sensitivity) and typical tritan responses in diabetic patients. Generally, in later stages of the disease, the red-green mechanisms are involved. By the impaired color vision study in diabetic patients, we can confirm the impaired retina-brain cortex pathway. We believe that the above not invasive test analysis can support the other instrumental and imaging analysis to study the impaired retina-brain cortex pathway. Moreover, we think that the present clinical method can be useful in terms of preventive medicine.


Assuntos
Córtex Cerebral/fisiopatologia , Percepção de Cores/fisiologia , Defeitos da Visão Cromática/fisiopatologia , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus Tipo 2/fisiopatologia , Retina/fisiopatologia , Vias Visuais/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Testes de Percepção de Cores , Defeitos da Visão Cromática/etiologia , Diabetes Mellitus Tipo 2/complicações , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Projetos Piloto
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