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In recent years, with the rapid development of machine learning (ML), it has gained widespread attention from researchers in clinical practice. ML models appear to demonstrate promising accuracy in the diagnosis of complex diseases, as well as in predicting disease progression and prognosis. Some studies have applied it to ophthalmology, primarily for the diagnosis of pathologic myopia and high myopia-associated glaucoma, as well as for predicting the progression of high myopia. ML-based detection still requires evidence-based validation to prove its accuracy and feasibility. This study aims to discern the performance of ML methods in detecting high myopia and pathologic myopia in clinical practice, thereby providing evidence-based support for the future development and refinement of intelligent diagnostic or predictive tools. PubMed, Cochrane, Embase, and Web of Science were thoroughly retrieved up to September 3, 2023. The prediction model risk of bias assessment tool was leveraged to appraise the risk of bias in the eligible studies. The meta-analysis was implemented using a bivariate mixed-effects model. In the validation set, subgroup analyses were conducted based on the ML target events (diagnosis and prediction of high myopia and diagnosis of pathological myopia and high myopia-associated glaucoma) and modeling methods. This study ultimately included 45 studies, of which 32 were used for quantitative meta-analysis. The meta-analysis results unveiled that for the diagnosis of pathologic myopia, the summary receiver operating characteristic (SROC), sensitivity, and specificity of ML were 0.97 (95% CI 0.95-0.98), 0.91 (95% CI 0.89-0.92), and 0.95 (95% CI 0.94-0.97), respectively. Specifically, deep learning (DL) showed an SROC of 0.97 (95% CI 0.95-0.98), sensitivity of 0.92 (95% CI 0.90-0.93), and specificity of 0.96 (95% CI 0.95-0.97), while conventional ML (non-DL) showed an SROC of 0.86 (95% CI 0.75-0.92), sensitivity of 0.77 (95% CI 0.69-0.84), and specificity of 0.85 (95% CI 0.75-0.92). For the diagnosis and prediction of high myopia, the SROC, sensitivity, and specificity of ML were 0.98 (95% CI 0.96-0.99), 0.94 (95% CI 0.90-0.96), and 0.94 (95% CI 0.88-0.97), respectively. For the diagnosis of high myopia-associated glaucoma, the SROC, sensitivity, and specificity of ML were 0.96 (95% CI 0.94-0.97), 0.92 (95% CI 0.85-0.96), and 0.88 (95% CI 0.67-0.96), respectively. ML demonstrated highly promising accuracy in diagnosing high myopia and pathologic myopia. Moreover, based on the limited evidence available, we also found that ML appeared to have favorable accuracy in predicting the risk of developing high myopia in the future. DL can be used as a potential method for intelligent image processing and intelligent recognition, and intelligent examination tools can be developed in subsequent research to provide help for areas where medical resources are scarce. PROSPERO CRD42023470820; https://tinyurl.com/2xexp738.

PurposeHigh myopia and pathologic myopia are common causes of visual morbidity. Myopic pathology can affect all regions of the retina, though there is currently no classification system to distinguish anterior (peripheral) and posterior (macular) pathology. We hypothesize that these classifications are characterized by distinct demographic and refractive features, highlighting the disparity in types of pathologic myopia.MethodsInstitutional retrospective cohort study. The Stanford University Medical Center Clinical Data Warehouse was used to identify patients with high myopia by ICD-9 and ICD-10 codes. Predetermined ICD diagnoses were then used to classify patients with high myopia into isolated high myopia (IHM), anterior pathologic myopia (APM), posterior pathologic myopia (PPM), and combined pathologic myopia (CPM). A cohort of this population was then manually reviewed to gather refractive data and confirm accuracy of ICD coding.ResultsPatients (3274) were identified with high myopia. Overall, 22.1% individuals met criteria for APM, 10.7% for PPM, 17.0% for CPM, and 50.2% for IHM. We identified a significantly higher frequency of females with PPM compared to APM (62.3 vs. 48.3%; OR, 1.73; 95% CI, 1.34 to 2.25), Asian patients with PPM as compared to APM (42.9 vs. 33.3%; OR, 1.50; 95% CI, 1.16 to 1.95), and younger patients with APM compared to PPM (median 45.3 vs. 63.4 years). The refractive error was significantly more myopic in the CPM (median − 9.8D; interquartile range, IQR 6.7) and PPM (median − 10.5D; IQR 9.8) subgroups as compared to the APM (median − 8.1D; IQR 3.5), and IHM (median − 8.2D; IQR 4.1) subgroups (p = 0.003).ConclusionsHigh myopia may be divided into four distinct subgroups based on presence and location of pathology, which is associated with differences in age, gender, race, and refractive error.

Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome ( COL11A1 and COL2A1 ; 6/20), FEVR ( FZD4 , LRP5 , and TSPAN12 ; 5/20), and others ( FBN1, GPR179, ZEB2 , PAX6, GPR143 , OPN1LW, FRMD7, and CACNA1F ; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.

Background To evaluate the long-term safety, efficacy, predictability, and stability of implantable collamer lens with a central hole (EVO ICL) implantation for correcting high myopia (HM) and super high myopia (SHM). Methods This prospective study evaluated 83 eyes of 46 patients who were divided into groups based on their spherical equivalent refractive error (SE): HM group (− 12 D ≤ SE < − 6 D) and SHM group (SE < − 12 D). They were followed up for 5 years after ICL implantation; assessments of uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), manifest refractive error, axial length, intraocular pressure, corneal endothelial cell density, and vault were conducted, and a questionnaire was administered. ResuIts At 5 years postoperatively, the safety indices of the HM and SHM groups were 1.03 ± 0.10 and 1.32 ± 0.39, and the efficacy indices were 0.83 ± 0.25 and 0.86 ± 0.32, respectively. In the HM group, 60.47% and 79.07% of the eyes were within ± 0.50 D and ± 1.00 D of the attempted correction, while it was achieved for 22.50% and 47.50% of the eyes in the SHM group, respectively. The SE of the HM group decreased from  − 9.72 ± 1.41 D preoperatively to 0.04 ± 0.39 D 1 month postoperatively and − 0.67 ± 0.57 D 5 years postoperatively, while in the SHM group, it decreased from − 15.78 ± 3.06 D preoperatively to  − 0.69 ± 0.97 D 1 month postoperatively and − 1.74 ± 1.19 D 5 years postoperatively. Conclusion EVO ICL implantation is safe, effective, and predictable for correcting HM and SHM. CDVA improved more after surgery for SHM, but the growth of axial length still needs attention.

Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

Background To evaluate laser-assisted in situ keratomileusis (LASIK) outcomes, subjective quality of vision (QoV) and patient satisfaction in eyes with very high myopia (VHM) above − 10.00 diopters (D). Methods Consecutive myopic and myopic-astigmatism eyes with spherical equivalent (SEQ) ranging between − 10.00 to − 13.50 D underwent LASIK with the WaveLight® Allegretto Wave® Eye-Q 400 Hz excimer laser. Treatment accuracy, efficacy, safety, stability, cylinder vectors, and higher-order aberrations were evaluated, together with subjective QoV and night vision disturbances (NVDs). Results 114 eyes had a preoperative SEQ of − 11.02 ± 0.81 D, with a median follow-up of 24 months. A total of 72, 84, and 94% of eyes were within ± 0.50, ± 0.75 and ± 1.00 D of intended SEQ ( R 2  = 0.71). The efficacy index was 0.93 ± 0.20, with 51 and 81% of eyes achieving 20/20 and 20/25. The astigmatism correction index was 0.95 ± 0.33. The safety index was 1.05 ± 0.12. The average myopic regression was − 0.51 ± 0.38 D. Preoperative QoV scores improved significantly postoperatively (7.5 ± 0.8 vs. 9.1 ± 0.7; P  <  0.001), with less NVDs ( P <  0.001 ). Total, spherical and coma root mean square (RMS) postoperative ocular higher-order aberrations were 1.07 ± 0.34, 0.67 ± 0.25, and 0.70 ± 0.40 μm. Conclusions Very high myopia LASIK between − 10.00 to − 13.50 D is safe and results in good visual outcomes, with high patient satisfaction and a significant improvement in patient-reported QoV after surgery. Appropriately selected patients within this very high myopia group can be included as LASIK candidates.

The aim of the present study was to investigate the potential changes in the choroidal thickness (CT) after surgical implantation of collamer lens (ICL) and to determine whether the variations in CT were associated with the degree of myopia. In the study, 98 eyes from 98 myopia patients were divided into two groups according to the degree of myopia: High myopia and super-high myopia. All eyes were measured using the swept-source optical coherence tomography (SS-OCT) technique. CT and CT variations were also recorded. The foveal CT increased significantly in high-myopia patients at 2 h after surgery and 3 months after surgery; the same tendency was observed in the inner nasal CT and outer nasal CT at the same time-points. In patients with super-high myopia, the subfoveal CT increased significantly at 2 h and 3 months after surgery compared with the pre-operative values. No statistically significant differences were obtained in any of the nine different choroidal regions evaluated at post-operative week 1 and post-operative month one. Furthermore, the increase in the subfoveal CT in the super-myopia group was significantly higher than that in the high-myopia group at 2 h and at 3 months after ICL. The results of the present study indicated that the CT significantly increased 2 h after the surgery and then reached a peak at 3 months, particularly in the subfoveal and nasal areas. A higher degree of myopia was associated with greater subfoveal choroidal changes.

To assess the efficacy of pars plana vitrectomy (PPV) and silicone oil tamponade for management of myopic retinal detachment associated with macular hole (MRDMH) and to assess the anatomical and functional outcomes of this technique and its long-term validity after silicone oil removal. Retrospective interventional non-comparative case series including consecutive patients who had PPV and silicone oil tamponade for MRDMH. All patients had an axial length ≥26 mm. Main outcome measures were retinal re-attachment and macular hole closure after silicone oil removal, improvement of best-corrected visual acuity (BCVA), and complications secondary to surgery. Chi square/Fisher's exact test was used to analyze categorical variables, while One-way ANOVA/Kruskal-Wallis test was used to compare variables across the closure type and complications. Correlations between numerical variables were tested using Spearman correlation. Kaplan-Meier method was used to estimate the event-free survival. P value is significant at 0.05. The study included 26 eyes of 26 patients. Retinal re-attachment rate after primary and secondary surgeries was 88.4% and 100%, respectively. W-type macular hole closure occurred in 58% of eyes. Vision improved in 58% of eyes. Mean final BCVA was 0.05 decimal units, p = 0.004. Cataract and glaucoma developed in 42% and 15% of eyes, respectively. Initial BCVA, axial length and duration of silicone oil tamponade did not correlate significantly with either the type of macular hole closure or the final BCVA. PPV and silicone oil tamponade technique promotes successful anatomical and functional outcome in MRDMH. Long-term success is maintained after silicone oil removal. High incidence of silicone oil-induced complications mandate its removal from eyes with successful retinal re-attachment.

This study aimed to investigate the correlation between myopia severity and the stress–strain index (SSI), measured with the Corneal Visualization Scheimpflug Technology (Corvis ST) device. The subjects were divided into two groups, based on both the axial length (AL) and spherical equivalent refraction (SER): 22–26.00 AL group (22 mm < AL < 26.00 mm) associated with SER of less than − 6.00D, and ≥ 26.00 AL group (AL ≥ 26.00 mm) associated with SER over − 6.00D. The differences in the Corvis ST-derived dynamic corneal response parameters and stiffness parameters between the two groups were investigated. The correlation between SSI and AL, SER, age, ratio of AL to radius of corneal curvature (CR) (AL/CR), and axial length minus anterior chamber depth (ACD) (AL-ACD) were analyzed. The SSI (0.95 ± 0.13 in the 22–26.00 AL group and 0.86 ± 0.15 in the ≥ 26.00 AL group) were significantly different between the two groups ( P  < 0.01). In the ≥ 26.00 AL group, there was evidence of a weak negative correlation between SSI and AL (r = − 0.265, P  < 0.01), AL/CR (r = − 0.376, P  < 0.01), and AL-ACD (r = − 0.224, P  < 0.01); and a weak positive correlation between SSI and SER (r = 0.251, P  < 0.01). However, in the 22–26.00 AL group, there was no correlation between SSI and AL, AL-ACD, AL/CR or SER ( P  > 0.05). SSI was significantly correlated with AL, which is the major determinant of SER, in the ≥ 26.00 AL group. This correlation was not affected with CR and ACD, as both AL/CR and AL-ACD also correlated with SSI at the same degree.

Yong Ma,1– 4,* Teruko Fukuyama,1– 4,* Jian Cao,1,5 Yuhao Ye,1– 4 Lingling Niu,1– 4 Peijun Yao,1– 4 Xiaoying Wang,1– 4 Xingtao Zhou,1– 4 Jing Zhao1– 4 1Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, People’s Republic of China; 2NHC Key Laboratory of Myopia Chinese Academy of Medical Sciences, Shanghai, People’s Republic of China; 3Shanghai Research Center of Ophthalmology and Optometry, Eye & ENT Hospital, Fudan University, Shanghai, People’s Republic of China; 4Shanghai Engineering Research Center of Laser and Autostereoscopic 3D for Vision Care, Eye & ENT Hospital, Fudan University, Shanghai, People’s Republic of China; 5State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jing Zhao, Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, People’s Republic of China, Tel + 86 021 64377134, Email zhaojing_med@163.com Xingtao Zhou, Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, People’s Republic of China, Tel + 86 021 64377134, Email doctzhouxingtao@163.comPurpose: To determine the contrast sensitivity (CS) and vision quality of patients with high and extreme high myopia following long-term evolution implantable collamer lens (EVO ICL) implantation.Patients and Methods: Thirty-five patients (60 eyes) with a myopia range of − 7.25 D to − 18.50 D were enrolled. Participants were categorized into the high myopia (HM) (spherical equivalent>-12.0 D) and extreme high myopia (EHM) (spherical equivalent≤-12.0 D) groups. Routine examinations, including measurements of endothelial cell density and anterior chamber parameters, were performed. CS and vision quality were assessed over a long-term follow-up period, with an average final follow-up time of 7.29± 0.82 years.Results: All surgical procedures were completed without any significant complications. No statistical differences for the CS parameters at the six different spatial frequencies in the corrected and uncorrected conditions were identified between the two groups (P> 0.05). The vision quality questionnaire results indicated both groups reported concerns regarding the frequency of halos (HM group 57.6%, EHM group 63%). Driving was identified as the most distressing postoperative daily life activity. Further analysis revealed a negative correlation between driving distress and CS (B=− 0.40, P< 0.01). The preoperative axial length was found to be correlated with CS (B=− 0.39, P< 0.01).Conclusion: Patients with HM and EHM maintained good long-term CS and vision quality after EVO ICL implantation. Halos and driving distress were the most common complaints.Keywords: contrast sensitivity, high myopia, implantation, lens, vision