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1.
J Med Genet ; 61(3): 262-269, 2024 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-37852749

RESUMEN

BACKGROUND: High myopia (HM) refers to an eye refractive error exceeding -5.00 D, significantly elevating blindness risk. The underlying mechanism of HM remains elusive. Given the extensive genetic heterogeneity and vast genetic base opacity, it is imperative to identify more causative genes and explore their pathogenic roles in HM. METHODS: We employed exome sequencing to pinpoint the causal gene in an HM family. Sanger sequencing was used to confirm and analyse the gene mutations in this family and 200 sporadic HM cases. Single-cell RNA sequencing was conducted to evaluate the gene's expression patterns in developing human and mouse retinas. The CRISPR/Cas9 system facilitated the gene knockout cells, aiding in the exploration of the gene's function and its mutations. Immunofluorescent staining and immunoblot techniques were applied to monitor the functional shifts of the gene mutations at the cellular level. RESULTS: A suspected nonsense mutation (c.C172T, p.Q58X) in CCDC66 was found to be co-segregated with the HM phenotype in the family. Additionally, six other rare variants were identified among the 200 sporadic patients. CCDC66 was consistently expressed in the embryonic retinas of both humans and mice. Notably, in CCDC66-deficient HEK293 cells, there was a decline in cell proliferation, microtube polymerisation rate and ace-tubulin level. Furthermore, the mutated CCDC66 failed to synchronise with the tubulin system during Hela cell mitosis, unlike its wild type counterpart. CONCLUSIONS: Our research indicates that the CCDC66 variant c.C172T is associated with HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM.


Asunto(s)
Miopía , Tubulina (Proteína) , Humanos , Animales , Ratones , Tubulina (Proteína)/genética , Células HeLa , Células HEK293 , Miopía/genética , Mutación , Mitosis/genética , Proteínas del Ojo/genética
2.
Ophthalmic Physiol Opt ; 44(6): 1237-1247, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38980146

RESUMEN

PURPOSE: Defocus Incorporated Soft Contact (DISC) lenses, a commonly used type of multifocal lens in clinical practice, may slow down myopia progression by inducing myopic retinal defocus. The purpose of this study was to explore whether the induced defocus across the retina could be affected by visual environments encountered in the real world, such as differences in viewing distance and ambient illuminance. METHODS: In this cross-over trial, 30 myopic adults wore both DISC lenses and single vision contact (SVC) lenses in random order. An open-view Hartmann-Shack scanning wavefront sensor was used to measure defocus at different retinal locations along the horizontal meridian under four experimental conditions: far target (3 m) and near targets (0.33 m) under scotopic (<1 lux) or photopic (~300 lux) conditions. RESULTS: The results showed that DISC lenses induced more myopic retinal defocus than SVC lenses in all conditions (all p < 0.05), except for the scotopic near target. In addition, for DISC lenses, the defocus was greater in the photopic than the scotopic conditions for both the far and near targets (both p < 0.05). CONCLUSION: In conclusion, the retinal defocus induced by these multifocal lenses was dependent on both visual distance and ambient illuminance, indicating that the visual conditions might affect the anti-myopia efficacy of these devices.


Asunto(s)
Lentes de Contacto Hidrofílicos , Estudios Cruzados , Miopía , Humanos , Miopía/fisiopatología , Miopía/terapia , Adulto , Masculino , Femenino , Adulto Joven , Refracción Ocular/fisiología , Agudeza Visual/fisiología , Iluminación
3.
Ophthalmic Physiol Opt ; 44(6): 1215-1223, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38881171

RESUMEN

PURPOSE: This study was conducted to determine whether orthokeratology (OK) lenses with a smaller back optic zone diameter (BOZD) could exhibit stronger myopia control effects. METHOD: A meta-analysis was registered in PROSPERO (CRD42023408184). A comprehensive systematic database search was conducted, encompassing PubMed, Cochrane Library, EMBASE, MEDLINE, Web of Science, Ovid, CNKI and CBM, to identify relevant studies up to 25 March 2023. The primary inclusion criteria for this meta-analysis were studies that investigated the myopia control effect of OK lenses with a small optical treatment area (≤5 mm). To assess the quality of the retrieved articles, two researchers evaluated them using the Cochrane bias risk assessment criteria. The primary outcome measures were the changes in axial length (AL) and refractive error, using the weighted mean differences (WMD) and 95% confidence intervals (CI) to assess differences between small and traditional back optical treatment zone groups in terms of these outcomes. RESULTS: The analysis encompassed five eligible studies, with a 1 year duration. The average difference in AL between the groups was 0.12 mm (WMD = -0.12, 95% CI [-0.16, -0.09], p < 0.00001). Likewise, the average difference in refractive error between the two groups was 0.44 D (WMD = 0.44, 95% CI [0.30, 0.57], p < 0.00001). None of the studies reported severe adverse events. CONCLUSIONS: Current evidence suggests that OK lenses with smaller back optical treatment zone are more effective in preventing myopia progression than traditional lenses. However, a longer-term evaluation is warranted.


Asunto(s)
Longitud Axial del Ojo , Miopía , Procedimientos de Ortoqueratología , Refracción Ocular , Humanos , Procedimientos de Ortoqueratología/métodos , Miopía/terapia , Miopía/fisiopatología , Refracción Ocular/fisiología , Lentes de Contacto
4.
Eye Contact Lens ; 50(7): 297-304, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38695745

RESUMEN

OBJECTIVES: To explore the potential of artificial intelligence (AI) to assist prescription determination for orthokeratology (OK) lenses. METHODS: Artificial intelligence algorithm development followed by a real-world trial. A total of 11,502 OK lenses fitting records collected from seven clinical environments covering major brands. Records were randomly divided in a three-way data split. Cross-validation was used to identify the most accurate algorithm, followed by an evaluation using an independent test data set. An online AI-assisted system was implemented and assessed in a real-world trial involving four junior and three senior clinicians. RESULTS: The primary outcome measure was the algorithm's accuracy (ACC). The ACC of the best performance of algorithms to predict the targeted reduction amplitude, lens diameter, and alignment curve of the prescription was 0.80, 0.82, and 0.83, respectively. With the assistance of the AI system, the number of trials required to determine the final prescription significantly decreased for six of the seven participating clinicians (all P <0.01). This reduction was more significant among junior clinicians compared with consultants (0.76±0.60 vs. 0.32±0.60, P <0.001). Junior clinicians achieved clinical outcomes comparable to their seniors, as 93.96% (140/149) and 94.44% (119/126), respectively, of the eyes fitted achieved unaided visual acuity no worse than 0.8 ( P =0.864). CONCLUSIONS: AI can improve prescription efficiency and reduce discrepancies in clinical outcomes among clinicians with differing levels of experience. Embedment of AI in practice should ultimately help lessen the medical burden and improve service quality for myopia boom emerging worldwide.


Asunto(s)
Algoritmos , Inteligencia Artificial , Miopía , Procedimientos de Ortoqueratología , Prescripciones , Humanos , Procedimientos de Ortoqueratología/métodos , Miopía/terapia , Miopía/fisiopatología , Femenino , Masculino , Lentes de Contacto , Niño , Ajuste de Prótesis/métodos , Adolescente , Agudeza Visual/fisiología
5.
Ophthalmology ; 130(5): 542-550, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36642334

RESUMEN

PURPOSE: Defocus incorporated multiple segments (DIMS) spectacle lenses were reported to slow myopia progression significantly in a randomized controlled trial (RCT). The study evaluated their effectiveness in clinical settings. DESIGN: Retrospective study. PARTICIPANTS: Patient records involving use of DIMS and single-vision (SV) spectacle lenses were collected from subsidiary hospitals of Aier Eye Hospital Group. METHODS: The spherical equivalent (SE), determined by subjective refraction, was adopted to assess the myopia progression. The strategy of propensity score matching (PSM) was applied to match the confounding baseline characteristics between the 2 groups. The effectiveness was calculated based on the difference of myopia progression of these 2 approaches. MAIN OUTCOME MEASURES: Change in SE. RESULTS: Three thousand six hundred thirty-nine patients with DIMS and 6838 patients with SV spectacles were included. The age of the patients was 6 to 16 years (mean ± standard deviation: 11.02 ± 2.53 years). The baseline SE was between 0.00 and -10.00 diopters (D) (mean ± standard deviation: -2.78 ± 1.74 D). After the PSM, data on 2240 pairs with 1-year follow-up and on 735 pairs with 2-year follow-up were obtained. Significantly slower progression was seen in the DIMS group at both the 1-year (DIMS, -0.50 ± 0.43 D; SV, -0.77 ± 0.58 D; P < 0.001) and 2-year (DIMS, -0.88 ± 0.62 D; SV, -1.23 ± 0.76 D; P < 0.001) subdataset. In the 1-year subdataset, 40% and 19% showed myopia progression of no more than 0.25 D for the DIMS and SV groups, respectively (chi-square, 223.43; P < 0.001), whereas 9% and 22% showed myopia progression of more than 1.00 D for the DIMS and SV groups, respectively (chi-square, 163.38; P < 0.001). In the 2-year subdataset, 33% and 20% showed myopia progression of no more than 0.50 D for the DIMS and SV groups, respectively (chi-square, 31.15; P < 0.001), whereas 12% and 29% showed myopia progression of more than 1.50 D for the DIMS and SV groups (chi-square, 65.60; P < 0.001). CONCLUSIONS: Although the magnitude was lower than that reported in the previous RCT, this large-scale study with diversity of the data sources confirmed the effectiveness of DIMS spectacles to slow myopia progression in clinical practice. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Asunto(s)
Miopía , Humanos , Niño , Adolescente , Miopía/terapia , Refracción Ocular , Anteojos , Progresión de la Enfermedad , Cara
6.
Optom Vis Sci ; 100(8): 543-549, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37499167

RESUMEN

PURPOSE: This study aimed to investigate the impact on childhood myopia of classrooms with spatial properties of classrooms resembling those of outdoor environments. This article describes the design, baseline characteristics, and the acceptability of this strategy. METHODS: Classrooms had custom-made wallpaper installed with forest and sky scenes that had spatial frequency spectra comparable with outdoor environments (i.e., outdoor scene classrooms). Acceptability of this strategy was evaluated by questionnaires. Outcomes to access the efficacy include cumulative proportion of myopia, change of cycloplegic spherical equivalent refractive error, and axial length. RESULTS: Ten classes, comprising 520 students, were randomly assigned into outdoor scene or tradition classrooms. There was no difference in refractive status between two groups (myopia/emmetropia/hyperopia, 16.3% vs. 49.4% vs. 34.2% in outdoor scene classrooms, 18.3% vs. 49.0% vs. 32.7% in traditional classrooms; P = .83). Compared with the traditional classrooms, 88.9% of teachers and 87.5% of students felt the outdoor scene classrooms enjoyable, 22.2% of teachers and 75.3% of students reported higher concentration, and 77.8% of teachers and 15.2% of students reported no change. In addition, 44.4% of teachers and 76.0% of students reported higher learning efficiency in the outdoor scene classrooms, and 55.6% of teachers and 18.3% of students reported no change. CONCLUSIONS: Outdoor scene classrooms are appealing to teachers and students. Outcomes of the study will inform the efficacy of this strategy in Chinese children.


Asunto(s)
Miopía , Niño , Humanos , Refracción Ocular , Pruebas de Visión , Estudiantes , Encuestas y Cuestionarios
7.
Ophthalmic Physiol Opt ; 42(6): 1253-1263, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36006761

RESUMEN

PURPOSE: To determine the efficacy of two myopia control contact lenses (CL) compared with a single-vision (SV) CL. METHODS: Ninety-five Chinese children with myopia, aged 7-13 years in a 1-year prospective, randomised, contralateral, cross-over clinical trial with 3 groups; bilateral SVCL (Group I); randomised, contralateral wear of an extended depth of focus (EDOF) CL and SVCL (Group II) and MiSight® CL and SVCL (Group III). In Groups II and III, CL were crossed over at the 6-month point (Stage 1) and worn for a further 6 months (Stage 2). Group I wore SVCL during both stages. At baseline and the end of each stage, cycloplegic spherical equivalent refractive error (SE) and axial length (AL) were measured. Six-monthly ΔSE/ΔAL across groups was analysed using a linear mixed model (CL type, stage, eye and eye* stage included as factors). Intra-group paired differences between eyes were determined. RESULTS: In Group I, mean (SD) ΔSE/ΔAL with SVCL was -0.41 (0.28) D/0.13 (0.09) mm and -0.25 (0.27) D/0.16 (0.09) mm for stages 1 and 2, with a mean paired difference between eyes of 0.01 D/0.01 mm and 0.05 D/-0.01 mm, respectively. ΔSE/ΔAL with SVCL was similar across Groups I to III (Stage 1: p = 0.89/0.44, Stage 2: p = 0.70/ 0.64). In Groups II and III, ΔSE/ΔAL was lower with the EDOF and MiSight® CL than the contralateral SVCL in 68% to 94% of participants, and adjusted 6-month ΔSE/ΔAL with EDOF was similar to MiSight® (p = 0.49/0.56 for ΔSE/ΔAL, respectively). Discontinuations across the three groups were high, but not different between the groups (33.3%, 48.4% and 50% for Groups I to III, respectively [p = 0.19]) and most discontinuations occurred immediately after baseline. CONCLUSIONS: Extended depth of focus and MiSight® CL demonstrated similar efficacy in slowing myopia. When switched from a myopia control CL to SVCL, myopia progression was similar to that observed with age-matched wearers in SVCL and not suggestive of rebound.


Asunto(s)
Lentes de Contacto Hidrofílicos , Miopía , Niño , Progresión de la Enfermedad , Anteojos , Humanos , Midriáticos , Miopía/prevención & control , Estudios Prospectivos , Refracción Ocular
8.
Int J Mol Sci ; 24(1)2022 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-36613520

RESUMEN

This retrospective study investigated circulating immune cell alteration in patients with myopic retinopathy. Blood test results and demographic and ocular information of 392 myopic patients and 129 emmetropia controls who attended Changsha Aier Eye Hospital from May 2017 to April 2022 were used in this study. Compared with emmetropia, the percentages of neutrophils and basophils and neutrophil/lymphocyte ratio were significantly higher in myopic patients, whereas the percentages of monocytes and lymphocytes and the counts of lymphocytes and eosinophils were significantly lower in myopic patients. After adjusting for age and hypertension/diabetes, the difference remained. Interestingly, the platelet counts were significantly lower in myopic patients after the adjustments. Further subgroup analysis using multivariable linear regression showed that higher levels of neutrophils, neutrophil/lymphocyte ratio, and platelet/lymphocyte ratio, lower levels of monocytes, eosinophils, lymphocytes, and platelets, were related to myopic peripheral retinal degeneration (mPRD) and posterior staphyloma (PS). A higher level of basophils was linked to myopic choroidal neovascularization (mCNV). Our results suggest that higher levels of circulating neutrophils and neutrophil/lymphocyte ratio, lower monocytes, eosinophils, lymphocytes, and platelets are related to mild myopic retinopathy. A higher level of circulating basophils is related to the severe form of myopic retinopathy, such as mCNV.


Asunto(s)
Neovascularización Coroidal , Miopía , Enfermedades de la Retina , Humanos , Neutrófilos , Basófilos , Estudios Retrospectivos , Linfocitos
9.
Int J Mol Sci ; 22(22)2021 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-34830490

RESUMEN

Myopia is the second leading cause of visual impairment globally. Myopia can induce sight-threatening retinal degeneration and the underlying mechanism remains poorly defined. We generated a model of myopia-induced early-stage retinal degeneration in guinea pigs and investigated the mechanism of action. Methods: The form-deprivation-induced myopia (FDM) was induced in the right eyes of 2~3-week-old guinea pigs using a translucent balloon for 15 weeks. The left eye remained untreated and served as a self-control. Another group of untreated age-matched animals was used as naïve controls. The refractive error and ocular biometrics were measured at 3, 7, 9, 12 and 15 weeks post-FDM induction. Visual function was evaluated by electroretinography. Retinal neurons and synaptic structures were examined by confocal microscopy of immunolabelled retinal sections. The total RNAs were extracted from the retinas and processed for RNA sequencing analysis. Results: The FDM eyes presented a progressive axial length elongation and refractive error development. After 15 weeks of intervention, the average refractive power was -3.40 ± 1.85 D in the FDM eyes, +2.94 ± 0.59 D and +2.69 ± 0.56 D in the self-control and naïve control eyes, respectively. The a-wave amplitude was significantly lower in FDM eyes and these eyes had a significantly lower number of rods, secretagogin+ bipolar cells, and GABAergic amacrine cells in selected retinal areas. RNA-seq analysis showed that 288 genes were upregulated and 119 genes were downregulated in FDM retinas compared to naïve control retinas. In addition, 152 genes were upregulated and 12 were downregulated in FDM retinas compared to self-control retinas. The KEGG enrichment analysis showed that tyrosine metabolism, ABC transporters and inflammatory pathways were upregulated, whereas tight junction, lipid and glycosaminoglycan biosynthesis were downregulated in FDM eyes. Conclusions: The long-term (15-week) FDM in the guinea pig models induced an early-stage retinal degeneration. The dysregulation of the tyrosine metabolism and inflammatory pathways may contribute to the pathogenesis of myopia-induced retinal degeneration.


Asunto(s)
Inflamación/genética , Miopía/genética , Degeneración Retiniana/genética , Tirosina/metabolismo , Animales , Modelos Animales de Enfermedad , Glicosaminoglicanos/genética , Glicosaminoglicanos/metabolismo , Cobayas , Humanos , Inflamación/patología , Redes y Vías Metabólicas/genética , Miopía/complicaciones , Miopía/patología , RNA-Seq , Retina/metabolismo , Retina/patología , Degeneración Retiniana/etiología , Degeneración Retiniana/patología , Tirosina/genética
10.
Graefes Arch Clin Exp Ophthalmol ; 258(5): 1031-1038, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32125507

RESUMEN

PURPOSE: High myopia can lead to blindness. Genipin is a collagen cross-linking agent that may be used to treat myopia. However, the mechanism of action of genipin for the treatment of myopia is unclear. This study investigated the effect of genipin on the scleral expression of the miR-29 cluster, matrix metalloproteinase 2 (MMP2), and collagen alpha1 chain of type I (COL1A1) in a guinea pig model of myopia. METHODS: The model of myopia was established by treating guinea pigs with a - 8D lens on both eyes for 21 days, and eyes with a refractive error of - 6D or greater were included. Quantitative reverse transcription-polymerase chain reaction (RT-PCR) and western blot were used to examine the mRNA and protein expression, respectively. A dual-luciferase assay was used to determine the direct targeting of the miR-29 cluster on the 3'-untranslated region (UTR) of the COL1A1 gene. RESULTS: The scleral expression of miR-29a, miR-29b, and miR-29c as well as MMP2 was significantly increased, and the scleral expression of COL1A1 was significantly decreased in the myopia group. Genipin treatment reversed these effects in myopic eyes. The dual-luciferase assay showed that the luciferase activities were significantly decreased in human embryonic kidney (HEK) cells transfected with miR-29a and miR-29b, but not miR-29c, compared with those transfected with control miRNAs. CONCLUSIONS: Genipin inhibits the scleral expression of the miR-29 cluster and MMP2 and promotes COL1A1 expression in a guinea pig model of myopia. Thus, genipin may promote COL1A1 expression by reducing the expression of the miR-29 cluster.


Asunto(s)
Colágeno Tipo I/genética , Regulación de la Expresión Génica/fisiología , Iridoides/farmacología , Metaloproteinasa 2 de la Matriz/genética , MicroARNs/genética , Miopía/genética , Esclerótica/efectos de los fármacos , Animales , Western Blotting , Células Cultivadas , Colagogos y Coleréticos/farmacología , Cadena alfa 1 del Colágeno Tipo I , Modelos Animales de Enfermedad , Femenino , Cobayas , Células HEK293 , Humanos , Masculino , ARN Mensajero/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Esclerótica/metabolismo
11.
J Cell Biochem ; 119(7): 5350-5358, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29331023

RESUMEN

The efficacy of temozolomide (TMZ) treatment for cancers is currently limited by inherent or the development of resistance, particularly, but not exclusively, due to the expression of the DNA repair enzyme O6-methylguanine-DNA methyltransferase (MGMT) in a significant proportion of tumors. We have found that TMZ analog C8-methyl imidazole tetrazine (PMX 465) displayed good anticancer activity against the colorectal carcinoma HCT116 cells which are MGMT-overexpressing and mismatch repair (MMR)-deficient. In this study, we found that PMX 465 could downregulate the expression of MGMT in HCT116 cells at the protein and mRNA levels. We found that PMX 465 could reduce MGMT expression by increasing the binding of wild-type p53 to the MGMT promoter and reducing the binding of Sp1 to the MGMT promoter.


Asunto(s)
Antineoplásicos Alquilantes/farmacología , Neoplasias Colorrectales/metabolismo , Metilasas de Modificación del ADN/metabolismo , Enzimas Reparadoras del ADN/metabolismo , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Temozolomida/análogos & derivados , Temozolomida/farmacología , Proteínas Supresoras de Tumor/metabolismo , Neoplasias Colorrectales/tratamiento farmacológico , Neoplasias Colorrectales/genética , Metilasas de Modificación del ADN/genética , Enzimas Reparadoras del ADN/genética , Regulación hacia Abajo , Células HCT116 , Humanos , Regiones Promotoras Genéticas , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismo , Proteínas Supresoras de Tumor/genética
12.
Biochem Biophys Res Commun ; 486(3): 686-692, 2017 05 06.
Artículo en Inglés | MEDLINE | ID: mdl-28336436

RESUMEN

Dopamine is known to play an important role in the pathophysiological process of myopia development relevant to the ambient lighting, but it is still poorly understood about how lighting regulates dopamine and its interaction with dopamine receptors to mediate the pathogenic signal transduction leading to alterations of ocular globe and the pathogenesis of myopia. Many studies have highlighted changes of ocular dopamine amount in response to different lighting conditions, but little attention has been paid to the dopamine receptors during these processes. Here we examined the effects of different lighting exposures on the expression of dopamine receptors in rat R28 retinal precursor cells. R28 cells normally grown in dark were exposed to a low (10 lux) or high (500 lux) intensity of a source of LED white light (5000 K-6000 K) for 12 h and total RNA was isolated either immediately or after certain time continuous growing in dark. Both conventional and real-time RT-PCR were performed to determine the expression of all five different dopamine receptors in cells after treatments. While the transcripts of dopamine D2, D3, and D4 receptors were not detected in the total RNA preparations of all the cells, those of D1 and D5 receptors (DRD1 and DRD5) were induced by lighting in contrast to the dark control. Elevated levels of DRD1 and DRD5 mRNA returned back close to the original levels once the cells were maintained in dark after light exposures. Immunofluorescence microscopy using a specific antibody confirmed an increase in the immunoreactivity of DRD1 in the cells exposed to 500 lux lighting versus dark control. Notably, treatments of R28 cells with nanomolar dosages of dopamine (0-500 nM) directly downregulated expression of both DRD1 and DRD5, whereas haloperidol (0-50 nM), a DRD2 antagonist, significantly induced expression of DRD1. These results suggest that dopamine receptors in the retinal cells might actively respond to the environmental lighting to act as an important player in the activation of the dopaminergic system in the ocular structures relevant to the lighting-induced pathogenic development of myopia.


Asunto(s)
Células Epiteliales/efectos de la radiación , Fototransducción , Receptores de Dopamina D1/genética , Receptores de Dopamina D5/genética , Retina/efectos de la radiación , Animales , Línea Celular , Dopamina/farmacología , Células Epiteliales/citología , Células Epiteliales/efectos de los fármacos , Células Epiteliales/metabolismo , Regulación de la Expresión Génica , Haloperidol/farmacología , Luz , Ratas , Ratas Sprague-Dawley , Receptores de Dopamina D1/agonistas , Receptores de Dopamina D1/antagonistas & inhibidores , Receptores de Dopamina D1/metabolismo , Receptores de Dopamina D5/agonistas , Receptores de Dopamina D5/antagonistas & inhibidores , Receptores de Dopamina D5/metabolismo , Retina/citología , Retina/efectos de los fármacos , Retina/metabolismo
13.
Exp Eye Res ; 145: 118-124, 2016 04.
Artículo en Inglés | MEDLINE | ID: mdl-26657138

RESUMEN

High ambient illuminances have been found to slow the development of deprivation myopia in several animal models. Almost complete inhibition of myopia was observed in chickens when intermittent episodes of high illuminance were alternated with standard office illuminance (50% duty cycle, alternate periods of 1 min 15,000 lux and 1 min 500 lux, continued for 10 h per day), or when illuminances were increased to 40,000 lux. Since the mechanisms by which bright light suppresses myopia are poorly understood, we have studied the roles of two well-established signaling molecules in myopia, dopamine and ZENK, in the chicken. In line with previous studies, we found that retinal dopamine release (as reflected by vitreal DOPAC content) was severely reduced during development of deprivation myopia. We found that illuminance of 15,000 lux, provided by quartz-halogen lamps, partially rescued the drop in retinal dopamine release. The finding is in line with the assumption that dopamine is involved in the light-induced inhibition of myopia. No differences in vitreal DOPAC were found when bright light was provided continuously or with 1:1 min alternating exposure with 500 lux. As previously described by others, wearing diffusers suppressed the expression of ZENK protein in glucagonergic amacrine cells (GACs) but neither continuous nor 1:1 min alternating bright to normal light could rescue the suppression of ZENK in GACs. While it is well known that light increases global retinal ZENK mRNA and protein levels, the changes of ZENK protein induced specifically in GACs by diffuser wear appear independent of light levels.


Asunto(s)
Dopamina/metabolismo , Proteína 1 de la Respuesta de Crecimiento Precoz/metabolismo , Iluminación , Miopía/metabolismo , Fototerapia/métodos , Epitelio Pigmentado de la Retina/metabolismo , Animales , Animales Recién Nacidos , Recuento de Células , Pollos , Modelos Animales de Enfermedad , Inmunohistoquímica , Masculino , Miopía/patología , Miopía/radioterapia , Epitelio Pigmentado de la Retina/patología , Epitelio Pigmentado de la Retina/efectos de la radiación
14.
Optom Vis Sci ; 93(1): 19-26, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26583794

RESUMEN

PURPOSE: Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an ophthalmic syndrome characterized by posterior microphthalmia, high hyperopia, retinitis pigmentosa, foveoschisis, and optic disc drusen. High hyperopia is a consistent sign of this syndrome. The purpose of this study was to detect MFRP mutations in 46 unrelated Chinese probands with high hyperopia. METHODS: Clinical data and genomic DNA were collected from 46 Chinese probands diagnosed as having high hyperopia. Genomic DNA from 42 probands was initially analyzed by whole exome sequencing. MFRP variants were confirmed by Sanger sequencing. The coding sequence of MFRP for four additional probands was also analyzed by Sanger sequencing. Candidate MFRP variants were further validated in available family members and 192 normal individuals. RESULTS: Potential pathogenic compound heterozygous mutations, including c.287_291del (p.P96Lfs*6), c.1615C>T (p.R539C), c.664C>A (p.P222T), c.1150dup (p.H384Pfs*8), and c.1549C>T (p.R517W), were detected in three of the 46 probands included in this study. The clinical data revealed that all patients in this study had high hyperopia of +13.50D or higher and an eye axial length of 16.78 mm or less. Electroretinography showed normal responses in a patient with missense mutations and reduced rod responses in another patient with missense and truncation mutations in whom optical coherence tomography showed developmental cystoid macular degeneration in both eyes. CONCLUSIONS: The current study expands our knowledge of the mutation spectrum of MFRP and its associated phenotypes. To our knowledge, this is the first report of MFRP mutations in a Chinese cohort.


Asunto(s)
Pueblo Asiatico/genética , Enfermedades Hereditarias del Ojo/genética , Mutación del Sistema de Lectura , Hiperopía/genética , Proteínas de la Membrana/genética , Mutación Missense , Secuencia de Bases , Niño , Preescolar , China/epidemiología , Electrorretinografía , Exoma/genética , Femenino , Humanos , Masculino , Linaje , Análisis de Secuencia de ADN , Tomografía de Coherencia Óptica
15.
Eur J Ophthalmol ; : 11206721241238878, 2024 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-38454852

RESUMEN

PURPOSE: To systematically analysis the burden and trends of blindness and vision loss for those aged ≥55 years from 1990 to 2019 and to predict trends over the next few years. METHODS: The data were extracted from the Global Burden of Disease Study (GBD) 2019. Trends from 1990 to 2019 were calculated using average annual percentage change (AAPC) by joinpoint regression analysis. Bayesian age-period-cohort (BAPC) models were used to predict future trends. RESULTS: In 2019, the global prevalence of blindness and vision loss was 471.1 million with 15.9 million disability-adjusted life-years (DALYs) for those aged ≥55 years. These numbers will reach 640.3 million cases and 18.9 million DALYs in 2030. The prevalence rate (per 100,000 population) increased from 32,137.8 (95% uncertainty interval [UI], 26,307.9-39,246.3) in 1990 to 33,509 (95% UI, 27,435.5-40,996.2) in 2019, with an AAPC of 0.143 (95% confidence interval [CI], 0.125-0.161; P < 0.001). The DALY rate (per 100,000 population) decreased from 632.9 (95% UI, 447.7-870.9) in 1990 to 579.3 (95% UI, 405.2-803.4) in 2019, with an AAPC of -0.293 (95% CI, -0.323-[-]0.263). Although the prevalence rates of cataracts, age-related macular degeneration, glaucoma, and near vision loss showed increasing trends from 1990 to 2019, the DALY rates indicated a downward trend for all blindness-causing diseases. The burden is heavier for women and in low Socio-demographic Index (SDI) regions. CONCLUSIONS: Despite a decline from 2001 to 2019, the burden of blindness and vision loss, measured by prevalence and DALYs, continues to rise after adjusting for population growth and aging. Blindness and vision loss are significant public health burdens, especially for women and in low-SDI regions.

16.
Cont Lens Anterior Eye ; : 102282, 2024 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-39069400

RESUMEN

PURPOSE: To investigate the potential benefit of combining orthokeratology (OK) lenses with 0.05% atropine ophthalmic solution on the efficacy of myopia control in the fast progressors of OK. METHODS: Average axial length (AL) elongation of both eyes in 70 participants using OK lenses alone or OK lenses combined with 0.05 % atropine ophthalmic solution was retrospectively reviewed. During the observation period (phase 1), all participants exhibited an AL elongation that exceeded 0.15 mm over a 6-month period or 0.3 mm over a 12-month period. Subsequently, the participants were divided into two groups: one group received nightly 0.05 % atropine ophthalmic solution in addition to OK lenses for another 1 year (OKA), while the other group continued using OK lenses alone (phase 2). The changes in AL elongation over time and the differences in AL elongation between the two groups were then compared. RESULTS: The baseline and phase 1 demographics and characteristics of the participants was similar between the two groups (all p > 0.05). when considering a one-year timeframe, the OKA group displayed a significantly less AL elongation compared to the OK group (0.14 ± 0.13 mm vs 0.27 ± 0.12 mm, p < 0.001). Within the OKA group, the AL elongation in the second half of the year was significantly faster than in the first half (0.12 ± 0.11 mm vs 0.02 ± 0.14 mm, p = 0.01). Conversely, there was no significant difference in AL elongation between the OK group in the first and second half of the year (0.12 ± 0.07 mm vs 0.15 ± 0.08 mm, p = 0.71). The combination of 0.05 % atropine ophthalmic solution had a significant effect on 1-year AL elongation (p < 0.001). CONCLUSIONS: This study provided preliminary evidence that the combination of OK lenses and 0.05% atropine ophthalmic solution can significantly enhance the effectiveness of myopia control.

17.
Eye Vis (Lond) ; 11(1): 26, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39085950

RESUMEN

BACKGROUND: Atropine, specifically 0.05% eyedrops, has proven effective in slowing myopia progression. This study aims to investigate peripheral refraction (PR) characteristics in myopic children treated with 0.05% atropine eyedrops at different frequencies. METHODS: One hundred thirty-eight myopic children completed this one-year prospective study, randomly assigned to once daily (7/7), twice per week (2/7), or once per week (1/7) groups. Spherical equivalent (SE) and axial length (AL) were measured. PR was assessed using a custom-made Hartmann-Shack wavefront peripheral sensor, covering a visual field of horizontal 60° and vertical 36°. Relative peripheral refraction (RPR) was calculated by subtracting central from peripheral measurements. RESULTS: After one year, SE increased more significantly in the 1/7 group compared to the 7/7 group (P < 0.001) and 2/7 group (P = 0.004); AL elongation was also greater in the 1/7 group compared to the 7/7 group (P < 0.001). In comparison with higher frequency groups, 1/7 group exhibited more myopic PR in the fovea and its vertical superior, inferior, and nasal retina; and less myopic RPR in the periphery retina after one-year (P < 0.05). Additionally, RPR in the 7/7 group demonstrated myopic shift across the entire retina, the 2/7 group in temporal and inferior retina, while the 1/7 group showed a hyperopic shift in the superior retina (P < 0.05). Moreover, myopic shift of RPR in the temporal retina is related to less myopia progression, notably in the 7/7 group (P < 0.05). CONCLUSIONS: Atropine inhibits myopia progression in a frequency-dependent manner. The once-daily group showed the slowest myopia progression but exhibited more myopic shifts in RPR. Additionally, RPR in the temporal retina was related to myopia progression in all groups. TRIAL REGISTRATION: Chinese Clinical Trial Registry, ChiCTR2100043506. Registered 21 February 2021, https://www.chictr.org.cn/showproj.html?proj=122214.

18.
Mol Vis ; 19: 2217-26, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24227917

RESUMEN

PURPOSE: Mouse serine protease 56 (Prss56) mutants show a phenotype of angle-closure glaucoma with a shortened ocular axial length. Mutations in the human PRSS56 gene are associated with posterior microphthalmia and nanopthalmos. In this study, variations in PRSS56 were evaluated in patients with either primary angle-closure glaucoma (PACG) or high hyperopia. METHODS: A total of 561 participants were enrolled in this study, including 189 individuals with PACG, 110 individuals with simple high hyperopia (sphere refraction ≥+5.00 D), and 262 normal control subjects (-0.5 D

Asunto(s)
Pueblo Asiatico/genética , Enfermedades Hereditarias del Ojo/genética , Glaucoma de Ángulo Cerrado/genética , Hiperopía/genética , Serina Proteasas/genética , Animales , Secuencia de Bases , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Ratones , Datos de Secuencia Molecular
19.
Optom Vis Sci ; 90(12): 1486-92, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24212187

RESUMEN

PURPOSE: To investigate the safety and efficacy of the treatment of myopic anisometropia with 1% atropine. METHODS: Twenty-two children with myopic anisometropia were prescribed 1% solution of atropine sulfate to the more myopic eye, one drop before sleep every 3 days. Children were visited every 3 to 4 months until the degree of anisometropia was no more than 0.5 diopters (D) ("Success") or unchanged after 9 months of treatment ("No effect"). The treatment effect was assessed by comparing the interocular imbalance in refraction and axial length before and after the treatment. A detailed questionnaire about subjective symptoms in each visit and an electroretinogram in the end were administered to evaluate the side effects of this treatment. RESULTS: The subjects were followed for 7 to 16 months. Six subjects withdrew participation on their own accord, and three were excluded because of inconstant usage of drug. Of the 13 remaining subjects, the refraction of the treated eyes decreased by 0.63 ± 0.59 D (p = 0.007), whereas that of the untreated eyes increased by -0.72 ± 0.65 D (p < 0.001). A corresponding trend was also found in the change of the axial length. Accordingly, the level of anisometropia was reduced from 1.82 ± 0.73 D to 0.47 ± 0.65 D (p < 0.001) and 10 (76.9%) of the 13 subjects were designated a "Success." One percent atropine was well tolerated by the children, and no electroretinogram abnormality was detected. CONCLUSIONS: The results from this pilot study indicate that monocular usage of a solution of 1% atropine sulfate is an effective treatment to reduce anisometropia, although with some tolerable side effects. Nevertheless, an attenuated benefit was observed after cessation of atropine treatment. Thus, participants should be informed of a possible rebound effect before the administration of atropine for myopic anisometropia.


Asunto(s)
Anisometropía/tratamiento farmacológico , Atropina/uso terapéutico , Midriáticos/uso terapéutico , Miopía/tratamiento farmacológico , Niño , Preescolar , Femenino , Humanos , Masculino , Proyectos Piloto , Estudios Prospectivos , Refracción Ocular/fisiología , Encuestas y Cuestionarios , Resultado del Tratamiento , Agudeza Visual/fisiología
20.
Clin Optom (Auckl) ; 15: 65-74, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37077225

RESUMEN

Background: The aim of this study was to investigate the effects of applied forces generated by a rim screw on the optical performance of mounted myopia lenses. The residual refractive error and retinal image quality of the corrected eyes were also investigated. Methods: For 120 lenses, internal lens stress was measured using a newly designed digital strain viewer (colmascope). Sixty myopic adults (120 eyes) were recruited. The effects of internal lens stress on residual refraction and retinal image quality were evaluated using OPD Scan III. The results were compared between loose and tight mounting and between the right and left eyes. Results: Significant differences were observed among nine lens zones in both the right and left lenses, regardless of the mounting state (P < 0.001). The differences were mainly derived from the five vertically arranged zones (P < 0.05). Significant differences in internal lens stress were observed between the right and left lenses (P < 0.05). No significant differences in central residual refractive error and retinal image quality of the corrected eyes were found between the loose- and tight-mounted lenses. Conclusion: The applied forces generated by the rim screw changed the peripheral optical performance of the mounted myopia lenses but exerted only negligible impacts on the central residual refractive error and visual image quality.

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