RESUMEN
Purpose: To examine the influence of subfoveal choroidal thickness (SFCT) and choroidal vascularity index (CVI) on axial length (AL) elongation over a 2-year period in highly myopic children. Methods: In this is prospective, longitudinal, observational study, 163 participants (74%), who were 8 to 18 years of age with bilateral high myopia (sphere ≤ -6.0 D) and without pathologic myopia, completed follow-up visits over 2 years. All participants underwent baseline and follow-up ocular examinations, including swept-source optical coherence tomography (SS-OCT) and AL measurements. SFCT and CVI were derived from SS-OCT scans using a deep-learning-based program for choroidal structure assessment. Results: The mean age of the participants at baseline was 15.0 years (±2.3), with males constituting 47% of the cohort. An inverse relationship was observed between AL elongation and increases in baseline age, baseline SFCT, and CVI, as well as a decrease in baseline AL. Adjusting for other factors, every 10-µm increase in SFCT and each 1% increase in CVI were associated with decreases in AL elongation of 0.007 mm (95% confidence interval [CI], -0.013 to -0.002; P = 0.011) and 0.010 mm (95% CI, -0.019 to 0.000; P = 0.050), respectively. The incorporation of SFCT or CVI into predictive models improved discrimination over models using only age, gender, and baseline AL (both P < 0.05, likelihood ratio test). Conclusions: Our findings suggest a possible association between a thinner choroid and increased AL elongation over 2 years in children with high myopia, after adjusting for potential baseline risk factors such as age, gender, and initial AL.
Asunto(s)
Longitud Axial del Ojo , Coroides , Miopía Degenerativa , Tomografía de Coherencia Óptica , Humanos , Coroides/irrigación sanguínea , Coroides/patología , Coroides/diagnóstico por imagen , Masculino , Femenino , Niño , Estudios Prospectivos , Tomografía de Coherencia Óptica/métodos , Longitud Axial del Ojo/patología , Longitud Axial del Ojo/diagnóstico por imagen , Adolescente , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/diagnóstico , Estudios de Seguimiento , Estudios LongitudinalesRESUMEN
BACKGROUND: To investigate alterations in choroidal vascularity index among highly myopic adults with fundus tessellation, utilizing optical coherence tomography. METHODS: Total of 143 highly myopic adults (234 eyes) with fundus tessellation were collected in this cross-sectional study, which was stratified into different lesion groups based on the novel tessellated fundus classification. Subfoveal choroidal thickness (SFCT), choroidal luminal area (LA), stromal area (SA), total choroidal area (TCA), and choroidal vascularity index (CVI) were analyzed utilizing optical coherence tomography (OCT) with enhanced depth imaging (EDI) mode, enabling precise quantification of these parameters. RESULTS: Comparison analysis demonstrated notable distinctions in spherical equivalent (SE), axial length (AL), and SFCT across the four tessellation grades (p < 0.001). Analysis of the choroidal vascularity parameters, including LA, TCA, and CVI, demonstrated notable disparities across the four groups (p < 0.001), while no significant variations were observed in SA when comparing Grade 1 versus Grade 2, as well as Grade 2 versus Grade 3 (p > 0.05). Logistic regression analyses illustrated that the higher grade of tessellated exhibited a positive association with AL (OR = 1.701, p = 0.027), while negatively associated with SFCT (OR = 0.416, p = 0.007), LA (OR = 0.438, p = 0.010) and CVI (OR = 0.529, p = 0.004). Multiple regression analyses demonstrated a significant negative association between CVI and both SE and AL after adjusting for age, while positively associated with SFCT (p < 0.05). CONCLUSION: Subtle choroidal vascularity changes may have a meaningful contribution to the development and progression of fundus tessellation. CVI and LA dramatically decreased during the early stages of tessellation development and maintained a relatively stable status when in the severe tessellated grades.
Asunto(s)
Coroides , Fondo de Ojo , Miopía Degenerativa , Tomografía de Coherencia Óptica , Humanos , Coroides/irrigación sanguínea , Coroides/diagnóstico por imagen , Coroides/patología , Estudios Transversales , Tomografía de Coherencia Óptica/métodos , Masculino , Femenino , Adulto , Miopía Degenerativa/diagnóstico , Miopía Degenerativa/fisiopatología , Persona de Mediana Edad , Estudios Retrospectivos , Agudeza Visual/fisiología , Anciano , Adulto JovenRESUMEN
Purpose: The purpose of this study was to examine characteristics of lamina cribrosa (LC) configuration in highly myopic (HM) eyes. Methods: Participants from the Beijing Eye Study 2011, free of optic nerve or retinal diseases, were randomly selected to examine LC depth (LCD) and LC tilt (LCT) using three-dimensional optical coherent tomography images of the optic nerve head (ONH). LCD and LCT were measured as the distance and angle between the LC plane with two reference planes, including the Bruch's membrane opening (BMO) plane and the peripapillary sclera (PPS) plane, respectively. Each parameter was measured in both horizontal and vertical B-scans. Results: The study included 685 individuals (685 eyes) aged 59.6 ± 7.7 years, including 72 HM eyes and 613 non-HM eyes. LCD measurements showed no significant differences between HM eyes and non-HM eyes in both horizontal (LCD-BMO = 421.83 ± 107.86 µm for HM eyes vs. 447.24 ± 104.94 µm for non-HM eyes, P = 0.18; and LCD-PPS = 406.39 ± 127.69 µm vs. 394.00 ± 101.64 µm, P = 1.00) and vertical directions (LCD-BMO = 435.78 ± 101.29 µm vs. 450.97 ± 106.54 µm, P = 0.70; and LCD-PPS = 401.62 ± 109.9 µm vs. 379.85 ± 110.35 µm, P = 0.35). However, the LCT was significantly more negative (tilted) in HM eyes than in non-HM eyes horizontally (LCT-BMO = -4.38 ± 5.94 degrees vs. -0.04 ± 5.86 degrees, P < 0.001; and LCT-PPS = -3.16 ± 5.23 degrees vs. -0.94 ± 4.71 degrees, P = 0.003), but not vertically (P = 1.00). Conclusions: Although LCD did not differ significantly between HM and non-HM eyes, LCT was more negative in HM eyes, suggesting that the temporal or inferior side of the LC was closer to the reference plane. These findings provide insights into morphological and structural changes in the LC and ONH between HM and non-HM eyes.
Asunto(s)
Miopía Degenerativa , Disco Óptico , Tomografía de Coherencia Óptica , Humanos , Tomografía de Coherencia Óptica/métodos , Persona de Mediana Edad , Masculino , Femenino , Disco Óptico/patología , Disco Óptico/diagnóstico por imagen , Anciano , Miopía Degenerativa/diagnóstico , Imagenología Tridimensional , Beijing/epidemiología , Lámina Basal de la Coroides/patología , Lámina Basal de la Coroides/diagnóstico por imagen , Estudios Transversales , China/epidemiología , Miopía/fisiopatología , Esclerótica/patología , Esclerótica/diagnóstico por imagenRESUMEN
Purpose: The purpose of this study was to assess the choroidal thickness and the Bruch's membrane opening size and their relationship to visual acuity in eyes with myopic macular degeneration (MMD). Methods: This was a population-based, cross-sectional study. Patients over the age of 30 years with high myopia (spherical equivalent ≤-5 diopters [D]) were recruited. The eyes were grouped according to the International Meta-Analysis for Pathologic Myopia (META-PM) classification based on fundus photographs and diffuse atrophy was subdivided into peripapillary diffuse choroidal atrophy (PDCA) or macular diffuse choroidal atrophy (MDCA). Swept-source optical coherence tomography imaging was performed and then the subfoveal choroidal thickness (SFCT) and Bruch's membrane opening diameter (BMOD) were measured. Results: Of the 470 study participants recruited, 373 patients (691 eyes), with a mean age of 42.8 ± 7.2 years, were eligible for the study and included in the analysis. There was no significant difference in SFCT between MDCA and patchy atrophy (M3) groups (P = 1.000), and the BMOD enlarged significantly from no myopic macular lesions to M3 (the P values of multiple comparison tests were all <0.005). Simple linear regression analysis showed that BMOD correlated positively with age (P < 0.001) and axial length (P < 0.001). Multiple linear regression analysis showed that best corrected visual acuity (BCVA) was significantly correlated with age (P = 0.041), axial length (P = 0.001), and BMOD (P = 0.017), but not with SFCT (P = 0.231). Conclusions: The significant variation of BMOD among MMD groups and the correlation between BMOD and BCVA in MMD eyes suggest that BMOD may be an imaging biomarker for monitoring MMD.
Asunto(s)
Lámina Basal de la Coroides , Degeneración Macular , Miopía Degenerativa , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Lámina Basal de la Coroides/patología , Lámina Basal de la Coroides/diagnóstico por imagen , Masculino , Tomografía de Coherencia Óptica/métodos , Estudios Transversales , Femenino , Agudeza Visual/fisiología , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Persona de Mediana Edad , Adulto , Degeneración Macular/fisiopatología , Degeneración Macular/diagnóstico , Coroides/patología , Coroides/diagnóstico por imagen , AncianoRESUMEN
BACKGROUND: Presently, the global prevalence of myopia and high myopia reaches approximately 1.95 billion and 277 million individuals, respectively. Projections suggest that by 2050, the number of people with myopia may rise to 4.758 billion and those with high myopia to 938 million. In highly myopic eyes, the occurrence of MF is reported to be as high as 8-33%. SUMMARY: This review comprehensively addresses the classification, pathogenesis, natural progression, concomitant pathologies, and therapeutic strategies for macular foveoschisis in highly myopic patients. KEY MESSAGES: In recent years, macular foveoschisis has emerged as a prevalent complication in individuals with high myopia, primarily resulting from the combination of inward traction by vitreoretinal adhesions and outward traction exerted by posterior scleral staphyloma on the retina. While some maintain partial visual stability over an extended period, others may progress to macular holes or even retinal detachment. For highly myopic patients with macular foveoschisis, the mainstay procedures are vitrectomy, macular buckle, and posterior scleral reinforcement. However, there is controversy about whether to perform inner limiting membrane peeling and gas filling.
Asunto(s)
Miopía Degenerativa , Retinosquisis , Humanos , Retinosquisis/diagnóstico , Retinosquisis/etiología , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Miopía Degenerativa/fisiopatología , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Vitrectomía/métodos , Mácula Lútea/patologíaRESUMEN
BACKGROUND: To compare the ocular features of highly myopic eyes with posterior staphyloma of wide macular type according to its morphological complexity. METHODS: In this cross-sectional study, wide macular posterior staphyloma (WMPS) was classified into the primary (Curtin type I) and the compound (Curtin types VI to X) forms based on the configuration within the staphyloma. The grades of myopic maculopathy and the thicknesses of choroid and sclera were compared between the primary and compound forms of WMPS. RESULTS: A total of 154 eyes (103 patients) with primary WMPS and 65 eyes (49 patients) with compound WMPS were included. Eyes with compound WMPS had worse visual acuity (P = 0.001) and greater axial length (P < 0.001) than those with primary WMPS. Compared to primary WMPS, compound WMPS had a higher grade of myopic macular degeneration (P < 0.001) and a higher frequency of lamellar or full-thickness macular hole associated with myopic traction (21.5% vs. 10.4%; P = 0.028) and active or scarred myopic choroidal neovascularization (33.8% vs. 20.1%; P = 0.030). On swept-source optical coherence tomography, eyes with compound WMPS had significantly thinner choroid and sclera. CONCLUSIONS: The compound form of WMPS had more severe myopic macular changes and worse visual prognosis compared to the primary form of WMPS, and these were associated with more structural deformation in the posterior eyeball. Compound WMPS should be considered as an advanced form of staphyloma.
Asunto(s)
Miopía Degenerativa , Esclerótica , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Femenino , Masculino , Estudios Transversales , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Persona de Mediana Edad , Agudeza Visual/fisiología , Tomografía de Coherencia Óptica/métodos , Anciano , Esclerótica/patología , Estudios Retrospectivos , Adulto , Coroides/patología , Coroides/diagnóstico por imagen , Enfermedades de la Esclerótica/diagnóstico , Mácula Lútea/patología , Mácula Lútea/diagnóstico por imagen , Dilatación PatológicaRESUMEN
PURPOSE: The anterior segment in individuals with high myopia has different features compared to those without myopia. IOLMaster 700 and Oculus Pentacam AXL are two accurate optical biometers. Both devices measure the cornea differently and thus yield different results when measuring intraocular lens (IOL) power. The purpose of this study is to assess the agreement of the IOL power calculation between IOLMaster 700 and Oculus Pentacam AXL in patients with high myopia. METHODS: A prospective, analytical cross-sectional study was conducted to assess the agreement between the IOL power calculation with IOLMaster 700 and Oculus Pentacam AXL. In this study, 44 eyes were examined using Oculus Pentacam AXL and IOLMaster 700, and IOL power was calculated using the Barret Universal II formula and the AMO Sensar AR40E. The Bland-Altman plot was used to evaluate the agreement between the two devices. RESULTS: Based on the IOLMaster 700 examination, 44 eyes with high myopia had axial lengths ranging from 26.05 to 34.02 mm. The mean IOL power was 8.26 ± 4.755 and 8.58 ± 4.776 based on IOLMaster 700 and Oculus Pentacam AXL, respectively. The Bland-Altman plot revealed good agreement between the two devices, with a mean difference of -0.3182 in the IOL power calculation and a 95% LoA of 0.88099-0.24462 with a 95% confidence interval. CONCLUSION: Both devices showed good agreement in the IOL power calculation in patients with high myopia.
Asunto(s)
Biometría , Lentes Intraoculares , Refracción Ocular , Humanos , Estudios Prospectivos , Masculino , Estudios Transversales , Femenino , Biometría/instrumentación , Biometría/métodos , Refracción Ocular/fisiología , Adulto , Persona de Mediana Edad , Reproducibilidad de los Resultados , Óptica y Fotónica , Miopía/fisiopatología , Miopía/diagnóstico , Longitud Axial del Ojo , Miopía Degenerativa/diagnóstico , Miopía Degenerativa/fisiopatologíaRESUMEN
Purpose: This study investigated the distribution of fundus tessellation density (FTD) in a Chinese pediatric population and its potential in reflecting early myopic maculopathy (tessellated fundus). Methods: Participants were enrolled from kindergartens, primary schools, and middle schools, with cluster sampling in Shanghai, China. A series of ophthalmic examinations was conducted. Based on fundus photograph, FTD was quantitatively assessed using an artificial intelligence algorithm, and tessellated fundus was diagnosed by well-trained ophthalmologists. Results: A total of 14,234 participants aged four to 18 years were included, with 7421 boys (52.1%). Tessellated fundus was observed in 2200 (15.5%) participants. The median of FTD was 0.86% (range 0.0-42.1%). FTD increased with age and axial length. In the logistics regression, larger FTD was independently associated with tessellated fundus (P < 0.001). The area under curves of receiver operating characteristic curve for categorizing tessellated fundus using FTD was 0.774, and the cutoff point of FTD was 2.22%. Conclusions: The density of fundus tessellation was consistent with the severity of myopia. FTD could help diagnose the early stage of myopic maculopathy, tessellated fundus, providing a new pattern for myopia screening and detection of early myopic fundus changes. Translational Relevance: Quantification of fundus tessellation with artificial intelligence could help detect early myopic maculopathy.
Asunto(s)
Fondo de Ojo , Humanos , Masculino , Adolescente , Niño , Femenino , Preescolar , China/epidemiología , Curva ROC , Miopía Degenerativa/diagnóstico , Degeneración Macular/diagnóstico , Degeneración Macular/epidemiología , Inteligencia Artificial , FotograbarRESUMEN
Purpose: The purpose of this study was to develop and validate prediction model for myopic macular degeneration (MMD) progression in patients with high myopia. Methods: The Zhongshan High Myopia Cohort for model development included 660 patients aged 7 to 70 years with a bilateral sphere of ≤-6.00 diopters (D). Two hundred twelve participants with an axial length (AL) ≥25.5 mm from the Chinese Ocular Imaging Project were used for external validation. Thirty-four clinical variables, including demographics, lifestyle, myopia history, and swept source optical coherence tomography data, were analyzed. Sequential forward selection was used for predictor selection, and binary classification models were created using five machine learning algorithms to forecast the risk of MMD progression over 10 years. Results: Over a median follow-up of 10.9 years, 133 patients (20.2%) showed MMD progression in the development cohort. Among them, 69 (51.9%) developed newly-onset MMD, 11 (8.3%) developed patchy atrophy from diffuse atrophy, 54 (40.6%) showed an enlargement of lesions, and 9 (6.8%) developed plus signs. Top six predictors for MMD progression included thinner subfoveal choroidal thickness, longer AL, worse best-corrected visual acuity, older age, female gender, and shallower anterior chamber depth. The eXtreme Gradient Boosting algorithm yielded the best discriminative performance (area under the receiver operating characteristic curve [AUROC] = 0.87 ± 0.02) with good calibration in the training cohort. In a less myopic external validation group (median -5.38 D), 48 patients (22.6%) developed MMD progression over 4 years, with the model's AUROC validated at 0.80 ± 0.008. Conclusions: Machine learning model effectively predicts MMD progression a decade ahead using clinical and imaging indicators. This tool shows promise for identifying "at-risk" high myopes for timely intervention and vision protection.
Asunto(s)
Algoritmos , Progresión de la Enfermedad , Aprendizaje Automático , Degeneración Macular , Miopía Degenerativa , Tomografía de Coherencia Óptica , Humanos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Tomografía de Coherencia Óptica/métodos , Anciano , Adolescente , Niño , Adulto Joven , Degeneración Macular/diagnóstico , Miopía Degenerativa/diagnóstico , Estudios de Seguimiento , Factores de Riesgo , Predicción , Medición de Riesgo/métodos , Agudeza VisualRESUMEN
Purpose: To investigate the characteristics of microperimetry and optical coherence tomography (OCT) in congenital stationary night blindness (CSNB), as well as their structure-function association. Methods: This cross-sectional study included 32 eyes from 32 participants with CSNB, comprising 18 with complete CSNB and 14 with incomplete CSNB, along with 36 eyes from 36 CSNB-unaffected controls matched for age, sex, and spherical equivalent. Using MP-3 microperimetry, central retinal sensitivity was assessed within a 20° field, distributed across six concentric rings (0°, 2°, 4°, 6°, 8°, and 10°). OCT was used to analyze retinal and choroidal thickness. The study aimed to assess the overall and ring-wise retinal sensitivity, as well as choroidal and retinal thickness in CSNB and CSNB-unaffected controls, with a secondary focus on the relationship between retinal sensitivity and microstructural features on OCT. Results: In comparison with CSNB-unaffected subjects, the overall and ring-wise retinal sensitivity as well as choroidal thickness were reduced in patients with CSNB (P < 0.001). Moreover, the central sensitivity in incomplete CSNB group was lower than in complete CSNB group (25.72 ± 3.93 dB vs. 21.92 ± 4.10 dB; P < 0.001). The retinal thickness in the CSNB group was thinner outside the fovea compared with the CSNB-unaffected group. Multiple mixed regression analyses revealed that point-to-point retinal sensitivity was significantly correlated with BCVA (P = 0.002) and the corresponding retinal thickness (P = 0.004). Conclusions: Examination of retinal sensitivity and OCT revealed different spatial distribution profiles in CSNB and its subtypes. In CSNB eyes, retinal sensitivity on microperimetry was associated with retinal thickness on OCT.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X , Miopía , Ceguera Nocturna , Retina , Tomografía de Coherencia Óptica , Pruebas del Campo Visual , Campos Visuales , Humanos , Tomografía de Coherencia Óptica/métodos , Femenino , Masculino , Estudios Transversales , Ceguera Nocturna/fisiopatología , Ceguera Nocturna/diagnóstico , Pruebas del Campo Visual/métodos , Campos Visuales/fisiología , Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Retina/fisiopatología , Retina/diagnóstico por imagen , Adulto , Miopía/fisiopatología , Miopía/diagnóstico , Adulto Joven , Enfermedades Hereditarias del Ojo/fisiopatología , Enfermedades Hereditarias del Ojo/diagnóstico , Agudeza Visual/fisiología , Adolescente , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Niño , Coroides/patología , Coroides/diagnóstico por imagen , Coroides/fisiopatologíaRESUMEN
PURPOSE: The accuracy of intraocular lens (IOL) calculations is one of the key indicators for determining the success of cataract surgery. However, in highly myopic patients, the calculation errors are relatively larger than those in general patients. With the continuous development of artificial intelligence (AI) technology, there has also been a constant emergence of AI-related calculation formulas. The purpose of this investigation was to evaluate the accuracy of AI calculation formulas in calculating the power of IOL for highly myopic patients. METHODS: We searched the relevant literature through August 2023 using three databases: PubMed, EMBASE, and the Cochrane Library. Six IOL calculation formulas were compared: Kane, Hill-RBF, EVO, Barrett II, Haigis, and SRK/T. The included metrics were the mean absolute error (MAE) and percentage of errors within ± 0.25 D, ± 0.50 D, and ± 1.00 D. RESULTS: The results showed that the MAE of Kane was significantly lower than that of Barrett II (mean difference = - 0.03 D, P = 0.02), SRK/T (MD = - 0.08 D, P = 0.02), and Haigis (MD = - 0.12 D, P < 0.00001). The percentage refractive prediction errors for Kane at ± 0.25 D, ± 0.50 D, and ± 1.00 D were significantly greater than those for SRK/T (P = 0.007, 0.003, and 0.01, respectively) and Haigis (P = 0.009, 0.0001, and 0.001, respectively). No statistically significant differences were noted between Hill-RBF and Barret, but Hill-RBF was significantly better than SRK/T and Haigis. CONCLUSION: The AI calculation formulas showed more accurate results compared with traditional formulas. Among them, Kane has the best performance in calculating IOL degrees for highly myopic patients.
Asunto(s)
Inteligencia Artificial , Lentes Intraoculares , Refracción Ocular , Agudeza Visual , Humanos , Refracción Ocular/fisiología , Óptica y Fotónica , Biometría/métodos , Reproducibilidad de los Resultados , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/diagnóstico , Miopía/fisiopatología , Miopía/diagnósticoRESUMEN
PURPOSE: To identify risk factors influencing visual outcomes in patients with pathological myopia-associated choroidal neovascularization (PM-CNV) following intravitreal injections of conbercept. METHODS: A total of 86 eyes from 86 patients received intravitreal conbercept in a 1 + PRN regimen. After the initial injection, patients were followed for 12 months. They were categorized into two groups based on their 12-month visual acuity change: those who achieved greater than a one-line improvement in BCVA (improved group; n = 65) and those who experienced a one-line or lesser improvement or a decrease in BCVA (non-improved group; n = 21). RESULTS: Over the 12-month period, the mean BCVA in the improved group significantly improved from 0.82 to 0.41 LogMAR. In the non-improved group, BCVA changed from 1.24 to 1.09 LogMAR. Similarly, the mean CRT decreased from 426.21 µm at baseline to 251.56 µm at 12 months in the improved group, and from 452.47 to 382.45 µm in the non-improved group. Multivariable logistic regression analyses revealed that older age (OR 1.287; 95% CI 1.019-1.625; P = 0.034), poorer baseline BCVA (OR 6.422; 95% CI 1.625-25.384; P = 0.008), the presence of subfoveal CNV (OR 4.817; 95% CI 1.242-18.681; P = 0.023), and organized interlacing patterns of CNV morphology (OR 5.593; 95% CI 1.397-22.392; P = 0.015) emerged as independent risk factors correlated with worsened visual prognosis following intravitreal conbercept injections. CONCLUSIONS: Conbercept demonstrates significant efficacy and safety in treating PM-CNV. Key factors influencing visual recovery post-treatment include older age, poorer baseline BCVA, the presence of subfoveal CNV, and organized interlacing patterns of CNV morphology.
Asunto(s)
Neovascularización Coroidal , Inyecciones Intravítreas , Miopía Degenerativa , Proteínas Recombinantes de Fusión , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/fisiopatología , Masculino , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Miopía Degenerativa/fisiopatología , Femenino , Proteínas Recombinantes de Fusión/administración & dosificación , Persona de Mediana Edad , Pronóstico , Tomografía de Coherencia Óptica/métodos , Angiografía con Fluoresceína/métodos , Estudios Retrospectivos , Estudios de Seguimiento , Adulto , Anciano , Resultado del Tratamiento , Inhibidores de la Angiogénesis/administración & dosificación , Fondo de OjoRESUMEN
PURPOSE: Myopia, especially high myopia (HM), represents a widespread visual impairment with a globally escalating prevalence. This study aimed to elucidate the genetic foundations associated with early-onset HM (eoHM) while delineating the genetic landscape specific to Shaanxi province, China. METHODS: A comprehensive analysis of whole-exome sequencing was conducted involving 26 familial trios displaying eoHM. An exacting filtration protocol identified potential candidate mutations within acknowledged myopia-related genes and susceptibility loci. Subsequently, computational methodologies were employed for functional annotations and pathogenicity assessments. RESULTS: Our investigation identified 7 genes and 10 variants associated with HM across 7 families, including a novel mutation in the ARR3 gene (c.139C>T, p.Arg47*) and two mutations in the P3H2 gene (c.1865T>C, p.Phe622Ser and c.212T>C, p.Leu71Pro). Pathogenic mutations were found in syndromic myopia genes, notably encompassing VPS13B, TRPM1, RPGR, NYX and RP2. Additionally, a thorough comparison of previously reported causative genes of syndromic myopia and myopia risk genes with the negative sequencing results pinpointed various types of mutations within risk genes. CONCLUSIONS: This investigation into eoHM within Shaanxi province adds to the current understanding of myopic genetic factors. Our results warrant further functional validation and ocular examinations, yet they provide foundational insights for future genetic research and therapeutic innovations in HM.
Asunto(s)
Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Mutación , Linaje , Humanos , Femenino , Masculino , Predisposición Genética a la Enfermedad/genética , Adulto , China/epidemiología , Análisis Mutacional de ADN , Miopía Degenerativa/genética , Miopía Degenerativa/diagnóstico , Niño , Adolescente , Miopía/genética , Miopía/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease. CASE PRESENTATION: A 6-year-old boy, who had been experiencing progressive vision deterioration in both eyes for the past two years, presented with a history of poor vision, delayed motor skills. The patient was diagnosed with micropenis in the pediatric outpatient clinic. Sparse hair, an unusually tall stature and craniofacial dysmorphology characterized by ocular hypertelorism, depressed nasal bridge, and epicanthic folds were observed. Comprehensive ophthalmic examination revealed high myopia and grade 3 macular hypoplasia. Diagnostic investigations including karyotype analysis and whole-exome sequencing identified an anomalous male karyotype comprising two X and two Y chromosomes, confirming a diagnosis of 48, XXYY syndrome. CONCLUSIONS: This study underscores the rare association of high myopia and grade 3 macular dysplasia with 48, XXYY syndrome. To our knowledge, this case marks the first recorded instance of macular dysplasia in a patient with 48, XXYY syndrome. This novel finding enhances our understanding of this syndrome's phenotypic variability.
Asunto(s)
Mácula Lútea , Humanos , Masculino , Niño , Mácula Lútea/patología , Mácula Lútea/anomalías , Miopía Degenerativa/diagnóstico , Miopía Degenerativa/genética , Miopía Degenerativa/complicaciones , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/complicaciones , Miopía/genética , Miopía/diagnóstico , Miopía/complicacionesRESUMEN
PURPOSE: The aim of this study was to investigate the microcirculatory characteristics of the dome-shaped macula (DSM), its complications in highly myopic eyes and to explore the factors associated with a DSM. METHODS: This cross-sectional case-control study included a total of 98 subjects (98 eyes): 49 eyes with DSM and 49 eyes without DSM. The axial length (AL) of the myopic eyes was matched 1:1 to eliminate the effect of AL differences on the results. Choroidal (CT) and scleral thickness (ST) and other structural parameters were assessed by swept-source optical coherence tomography (SS-OCT). OCT angiography was used to measure microcirculatory parameters in highly myopic eyes. RESULTS: Subjects with DSM had thinner subfoveal choroidal thickness (46.01 ± 13.25 vs. 81.62 ± 48.26 µm; p < 0.001), thicker subfoveal scleral thickness (SFST; 331.93 ± 79.87 vs. 238.74 ± 70.96 µm; p < 0.001) and thinner foveal CT (66.86 ± 24.65 vs. 107.85 ± 52.65 µm; p < 0.001) compared to subjects without DSM. The foveal choroidal perfusion area (0.72 ± 0.04 vs. 0.76 ± 0.04 mm2; p < 0.001) and foveal choroidal vascularity index (0.15 ± 0.04 vs. 0.33 ± 0.14; p < 0.001) were significantly lower in eyes with DSM. Retinoschisis (81.6% vs. 38.8%; p < 0.001) was more common in eyes with DSM. Eyes with horizontal DSM had worse best-corrected logMAR visual acuity than eyes with round DSM (0.34 ± 0.22 vs. 0.23 ± 0.22; p = 0.03). DSM height (98.95 ± 65.17 vs. 104.63 ± 44.62 µm; p = 0.05) was lower in the horizontal DSM. SFST (OR = 1.06, p = 0.04) and foveal choroidal vascularity index (OR = 0.711, p = 0.02) were significantly associated with DSM. DSM width (p < 0.001), foveal choroidal perfusion area (p = 0.01), foveal choriocapillaris perfusion area (p = 0.02) and parafoveal choroidal vascularity index (p = 0.03) were the most significantly associated factors with DSM height. CONCLUSIONS: The microcirculatory characteristics of eyes with DSM differed from those without DSM. Microcirculatory abnormalities were significantly associated with a DSM. The height of the DSM was associated with decreased blood perfusion.
Asunto(s)
Angiografía con Fluoresceína , Mácula Lútea , Microcirculación , Tomografía de Coherencia Óptica , Humanos , Tomografía de Coherencia Óptica/métodos , Masculino , Femenino , Estudios Transversales , Mácula Lútea/irrigación sanguínea , Mácula Lútea/diagnóstico por imagen , Mácula Lútea/patología , Microcirculación/fisiología , Estudios de Casos y Controles , Persona de Mediana Edad , Adulto , Angiografía con Fluoresceína/métodos , Agudeza Visual/fisiología , Vasos Retinianos/diagnóstico por imagen , Vasos Retinianos/fisiopatología , Vasos Retinianos/patología , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/diagnóstico , Coroides/irrigación sanguínea , Coroides/diagnóstico por imagen , Fondo de OjoRESUMEN
PURPOSE: To synthesise evidence across studies on factors associated with pathologic myopia (PM) onset and progression based on the META-analysis for Pathologic Myopia (META-PM) classification framework. METHODS: Findings from six longitudinal studies (5-18 years) were narratively synthesised and meta-analysed, using odds ratio (OR) as the common measure of association. All studies adjusted for baseline myopia, age and sex at a minimum. The quality of evidence was rated using the Grades of Recommendation, Assessment, Development and Evaluation framework. RESULTS: Five out of six studies were conducted in Asia. There was inconclusive evidence of an independent effect (or lack thereof) of ethnicity and sex on PM onset/progression. The odds of PM onset increased with greater axial length (pooled OR: 2.03; 95% CI: 1.71-2.40; p < 0.001), older age (pooled OR: 1.07; 1.05-1.09; p < 0.001) and more negative spherical equivalent refraction, SER (OR: 0.77; 0.68-0.87; p < 0.001), all of which were supported by an acceptable level of evidence. Fundus tessellation was found to independently increase the odds of PM onset in a population-based study (OR: 3.02; 2.58-3.53; p < 0.001), although this was only supported by weak evidence. There was acceptable evidence that greater axial length (pooled OR: 1.23; 1.09-1.39; p < 0.001), more negative SER (pooled OR: 0.87; 0.83-0.92; p < 0.001) and higher education level (pooled OR: 3.17; 1.36-7.35; p < 0.01) increased the odds of PM progression. Other baseline factors found to be associated with PM progression but currently supported by weak evidence included age (pooled OR: 1.01), severity of myopic maculopathy (OR: 3.61), intraocular pressure (OR: 1.62) and hypertension (OR: 0.21). CONCLUSIONS: Most PM risk/prognostic factors are not supported by an adequate evidence base at present (an indication that PM remains understudied). Current factors for which an acceptable level of evidence exists (limited in number) are unmodifiable in adults and lack personalised information. More longitudinal studies focusing on uncovering modifiable factors and imaging biomarkers are warranted.
Asunto(s)
Progresión de la Enfermedad , Miopía Degenerativa , Humanos , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/epidemiología , Miopía Degenerativa/diagnóstico , Factores de Riesgo , Refracción Ocular/fisiologíaRESUMEN
PURPOSE: To evaluate the incidence, rate, and pattern of progression of myopic maculopathy in eyes operated with macular buckle (MB) for myopic traction maculopathy versus a control group without surgery to find out whether the progression varies due to the MB's indentation and to evaluate possible MB-related pigmentary changes or atrophy. METHODS: Eyes operated with MB with two good quality fundus images: one preoperative or early postoperative image and a second image at least 12 months apart; the control group comprised the contralateral eyes. Demographics, axial length, follow-up, stage of myopic traction maculopathy, and myopic maculopathy were reported. Progression results of groups and subgroups (mid- and long-term follow-up) were reported and compared. RESULTS: Overall, 116 eyes of 66 patients were included. Progression was found in 29 eyes (41.4%) and 23 eyes (50%) in the MB group and control group, respectively. The progression rate was 73 per 1,000 eye-years and 88.9 per 1,000 eye-years in the MB group and the control group, respectively. Axial length was found to predict progression (odds ratio [OR], 2.59; P = 0.02). CONCLUSION: Progression of myopic maculopathy was similar in both groups and was mildly greater in the control group. No MB-related pigmentary changes or atrophy was detected.
Asunto(s)
Progresión de la Enfermedad , Mácula Lútea , Miopía Degenerativa , Curvatura de la Esclerótica , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Masculino , Femenino , Estudios de Seguimiento , Persona de Mediana Edad , Tomografía de Coherencia Óptica/métodos , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Estudios Retrospectivos , Mácula Lútea/patología , Mácula Lútea/diagnóstico por imagen , Curvatura de la Esclerótica/métodos , Anciano , Atrofia , Adulto , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etiología , Enfermedades de la Retina/fisiopatología , Factores de TiempoRESUMEN
BACKGROUND: Anti-vascular endothelial growth factor (anti-VEGF) therapy is used for myopic choroidal neovascularization (mCNV). Patchy chorioretinal atrophy (pCRA) enlargement has been reported in mCNV cases associated with vision loss. Our aim was to compare the long-term effectiveness of anti-VEGF therapy alone versus anti-VEGF followed by posterior scleral reinforcement (PSR) in controlling myopic maculopathy in mCNV eyes. METHODS: We performed a retrospective review of the medical records of 95 high myopia patients (refractive error ≥ 6.00 diopters, axial length ≥ 26.0 mm) with mCNV. Patients were treated with anti-VEGF alone (group A) or anti-VEGF followed by PSR (group B). The following data were collected: refractive error, best corrected visual acuity (BCVA), ophthalmic fundus examination, ocular coherence tomography and ocular biometry at 12 and 24 months pre- and postoperatively. The primary outcomes were changes in pCRA and BCVA. RESULTS: In 26 eyes of 24 patients, the mean pCRA size significantly increased from baseline (0.88 ± 1.69 mm2) to 12 months (1.57 ± 2.32 mm2, t = 3.249, P = 0.003) and 24 months (2.17 ± 2.79 mm2, t = 3.965, P = 0.001) postoperatively. The increase in perilesional pCRA in group B (n = 12) was 98.2% and 94.2% smaller than that in group A (n = 14) at 12 and 24 months (Beta 0.57 [95% CI 0.01, 191 1.13], P = 0.048). In group B, 7 eyes (58.3%) gained more than 2 lines of BCVA compared with only 4 eyes (28.6%) in group A at 24 months. CONCLUSION: Anti-VEGF therapy followed by PSR achieved better outcomes than anti-VEGF therapy alone in controlling the development of myopic maculopathy in mCNV and may constitute a better treatment option by securing a better long-term VA outcome.
Asunto(s)
Neovascularización Coroidal , Degeneración Macular , Miopía Degenerativa , Enfermedades de la Retina , Humanos , Inhibidores de la Angiogénesis/uso terapéutico , Factores de Crecimiento Endotelial/uso terapéutico , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Agudeza Visual , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Enfermedades de la Retina/diagnóstico , Degeneración Macular/tratamiento farmacológico , Esclerótica , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Angiografía con Fluoresceína , Inyecciones IntravítreasRESUMEN
PURPOSE: To investigate a novel marker to diagnose posterior staphylomas by measuring the radius of the steepest curvature on the retinal pigment epithelium (RPE) segmentation line using optical coherence tomography (OCT). STUDY DESIGN: Retrospective Cross-sectional Study. METHODS: The authors developed a prototype software to measure the radius of curvature on the RPE segmentation line of OCT. Twelve images of 9-mm radial OCT scans were used. The radius of curvature was measured at the steepest area of the RPE segmentation line, and the macular curvature (MC) index was calculated based on its reciprocal. Based on the wide-field fundus findings, the study sample was divided into three groups: definite posterior staphyloma, no posterior staphyloma, and undetermined. The differences of MC index among the groups and the correlation between the MC index, age, and axial length were analyzed. RESULTS: The present study analyzed 268 eyes, with 54 (20.1%) with definite posterior staphyloma, 202 (75.4%) with no posterior staphyloma, and 12 (4.5%) with undetermined disease status. A maximum MC index of 37.5 was observed in the group with no posterior staphyloma, which was less than the minimum MC index of 42.7 observed in the group with definite posterior staphyloma. The MC index had strong correlations with the axial length and age in eyes with high myopia. CONCLUSIONS: Eyes with posterior staphyloma have a steeper curvature than those with radius 8.44 mm, while eyes without posterior staphyloma do not. MC index 40 (radius 8.44 mm) might act as a reference to distinguish between those with and those without posterior staphyloma.