High Myopia Research Articles

Biochemical components of corneal stroma: a study on myopia classification based on Raman spectroscopy and deep learning methods

The study aimed to identify differences in the biochemical composition of corneal stroma lenses across varying degrees of myopia using Raman spectrum characteristics. Corneal stroma lens samples from 38 patients who underwent small incision lens extraction (SMILE) surgery, were categorized into low (n = 9, spherical power ≧ -3.00D), moderate (n = 23, spherical power < -3.00D and > -6.00D), and high myopia (n = 6, spherical power ≦-6.00D) groups. A custom-built microscopic confocal Raman system (MCRS) was used to collect Raman spectra, which were processed by smoothing, denoising, and baseline calibrating to refine raw data. Independent sample t-tests were used to analyze spectral feature peaks among sample types. Significant differences (P < 0.001) were found in multiple Raman spectral characteristic peaks (854 cm-1, 937 cm-1, 1002 cm-1, 1243 cm-1, 1448 cm-1, and 2940 cm-1) between low and high myopia samples, particularly at 2940 cm-1. Differences were also found between low and moderate, and moderate and high myopia samples, although fewer than between low and high myopia samples. The three-classification model, particularly with PLS-KNN training, exhibited superior discriminative performance with accuracy rates of 95%. Similarly, the two-classification model for low and high myopia achieved high accuracy with PLS-KNN (94.4%) compared to PCA-KNN (93.3%). PLS dimensionality reduction slightly outperformed PCA, enhancing classification accuracy. In addition, in both reduction methods, the KNN algorithm demonstrated the highest accuracy and performance. The optimal PLS-KNN classification model showed AUC values of 0.99, 0.98, and 1.00 for ROC curves corresponding to low, moderate, and high myopia, respectively. Classification accuracy rates were 89.7% and 96.9%, and 100% for low and high myopia, respectively. For the two-classification model, accuracy reached 94.4% with an AUC of 0.98, indicating strong performance in distinguishing between high and low myopic corneal stroma. We found significant biochemical differences such as collagen, lipids, and nucleic acids in corneal stroma lenses across varying degrees of myopia, suggesting that Raman spectroscopy holds substantial potential in elucidating the pathogenesis of myopia.

Agreement between Two Biometers for Central Corneal Thickness Measurement in High Myopia Patients

Background In refractive surgery, the measurement of Central Corneal Thickness (CCT) is a critical factor in the preparation and screening of surgery to correct myopia. CCT measurements can be measured by optical biometers, including the Scheimpflug camera and Swept-source Optical Coherence Tomography (SS-OCT). Aim This study aimed to compare the Central Corneal Thickness (CCT) measurements made with Swept-source Optical Coherence Tomography (SS-OCT)-based biometers and the Scheimpflug camera in patients with high myopia. Methods An analytical cross-sectional study was performed to evaluate the agreement between Central Corneal Thickness (CCT) values obtained using Swept-source Optical Coherence Tomography (SS-OCT) and the Scheimpflug camera. We included a total of 28 individuals with high myopia, including 44 eyes, for our study. These patients underwent Central Corneal Thickness (CCT) tests using both Swept-source Optical Coherence Tomography (SS-OCT) and the Scheimpflug camera. The Bland-Altman test was used to assess the agreement between the two devices. Results Forty-four eyes with axial lengths ranging from 26.05 to 34.02 mm based on SS-OCT examinations were included in this study. The mean CCT was 527.59 ± 35.710 (p <0.05) μm and 525.64 ± 35.421 μm (p <0.05), based on SS-OCT and the Scheimpflug camera, respectively. The Bland-Altman plot revealed good agreement between both devices, with a mean difference of 2.3409 μm; however, a 95% limit of agreement demonstrated a wide range, ranging from -8.48509 to 12.39400 μm at a 95% confidence interval. Conclusion CCT measurements using SS-OCT and the Scheimpflug camera differed significantly among patients with high myopia. Our findings have suggested that CCT measurements made with either device should be interpreted with caution and not be used interchangeably.

Is There an Impending Epidemic of Myopia in Southeast Asia? An Appraisal of the Evidence

Predictions on the future prevalence of myopia suggest one of the Global Burden of Disease regions will develop an epidemic like in East Asia and Singapore in Southeast Asia. This paper analyses the available evidence on prevalence of myopia in this region, concluding that the bulk of the evidence suggests that the prevalence of myopia at the end of schooling is still modest, although two papers suggest that in young adults in Thailand and Indonesia, the prevalence of myopia may be approaching levels typical of the epidemic of myopia. It also analyses an indicator of expected years of education at school entry, as well as current educational levels of adults, using data from the calculation of the UN Human Development Index. It then analyses the results obtained by the countries of the Southeast Asian region in the PISA international surveys of student achievement. Neither of these educational indicators suggests an impending epidemic of myopia. There is a need for more data to clarify this uncertainty. It is suggested that future collection of data concentrate on determining the prevalence of myopia in young adults finishing their schooling. Even methodology as simple as determining levels of lowered visual acuity in senior school students should be sufficient to resolve the uncertainty. This group provides a sound basis for the prediction of future levels of myopia in the adult population, and avoids the impact of the high levels of myopia and high myopia associated with cataract development that occur in much of Southeast Asia.

The application of rigid gas permeable contact lenses after surgery for infantile nystagmus syndrome

The purpose of this study is to investigate the improvement in visual acuity when applying Rigid Gas Permeable Contact Lenses (RGPCL) compared to spectacles in patients after surgical treatment for infantile nystagmus syndrome (INS). A total of 33 patients with nystagmus who had nystagmus surgery from October 2020 to July 2021 were enrolled and all were fitted RGPCL. SPSS statistical software was used to analyze the difference between best-corrected visual acuity with spectacle(BCSVA) and best-corrected visual acuity with RGPCL (BCRVA) in these patients. According to the refractive status of each eye, it was grouped into 2 groups. We study the difference between its BCSVA and BCRVA in different groups. In our study, BCRVA was significantly better than BCSVA in all participants (P < 0.001), with a strong positive correlation between them (overall r = 0.9333). In Group A (SE ≥ -3.00D, 15 eyes), the difference was significant (P = 0.0018), while in Group B (SE < -3.00D, 27 eyes), the difference was highly significant (P < 0.001). However, there was no significant difference in corrective visual acuity between the two groups (P = 0.5934). The mean difference between BCRVA and BCSVA was − 0.1160 ± 0.1221 in all participants, with similar differences in both groups. These findings suggest that BCRVA and BCSVA are closely related but with significant differences. The results of our study show that for patients who have undergone surgery for INS, RGPCL provide better best-corrected visual acuity compared to spectacle correction. This holds true for patients with high myopia, low myopia, and hyperopia. We recommend the use of RGPCL for refractive correction in patients after surgery for INS.

Coexistence of vascular Ehlers-Danlos syndrome and sticky platelet syndrome: a lethal combination in a young patient with thrombophilia and haemorrhagic diathesis

Background: The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis. Case Report: We report a 27-year-old woman, smoker and regular consumer of energy drinks, with a medical history of subclinical hypothyroidism, minor thalassemia, recurrent joint sprains, high myopia, and anterior mitral valve prolapse, who was diagnosed with both vEDS and SPS type I. The patient experienced a catastrophic progression over a short time period, marked by numerous thrombotic and bleeding episodes, ultimately leading to a fatal outcome. Conclusions: This report documents the first known case of concurrent vEDS and SPS, highlighting the complexity and challenges in the management of these two rare conditions together. The interplay between these syndromes necessitates careful clinical consideration and the development of tailored management strategies to mitigate associated risks. This underscores the crucial role of the internist in overseeing such cases. Further studies are needed to explore new therapeutic strategies aimed at improving survival rates and outcomes for patients with this unique combination of disorders.

Kongenitale Katarakt und Pseudophakie – Myopiekontrolle in einer ungewöhnlichen Ausgangssituation

Purpose. An effective reduction in the progression of myopia can be achieved by pharmacological administration of low-dose atropine eye drops, the fitting of multifocal and Ortho-K contact lenses or with specialized spectacle lenses. The case report describes the successful stabilization of myopia and visual acuity in a 14-year-old patient who had a posterior chamber IOL implanted at the age of 2 as a result of a congenital cataract. Material and Methods. A 14-year-old untreated patient with pseudophakia after congenital cataract, was fitted with multifocal rigid-gas permeable (RGP) contact lenses for high myopia, irregular astigmatism, anisometropia and nystagmus to increase visual acuity and prevent myopia progression. Results. With the fitted contact lenses, good lenses tolerance was achieved with a daily wearing time of 12 hours and an increase of visual acuity from spectacle-corrected visual acuity (20/160) to contact lens-corrected visual acuity (20/40) and stabilization of myopia over 3.5 years. With the contact lenses in combination with progressive spectacles, it was possible to achieve an additional increase in near vision and successful treatment of the patient. With her new quality of life, the patient can now complete school education independently and start an apprenticeship. Conclusion. Pseudophakic children with high myopia and astigmatism can also be successfully fitted with multifocal contact lenses with the aim of increasing visual acuity and stabilizing myopia.

Comparing IOP-Induced Scleral Deformations in the Myopic and Myopic Glaucoma Spectrums.

To compare changes in macular curvature following acute IOP elevation across a range of myopic conditions. We studied 328 eyes from 184 subjects, comprising 32 emmetropic controls (between +2.75 and -2.75 diopters), 50 eyes with high myopia (<-5 diopters; HM), 108 highly myopic with glaucoma (HMG) and 105 pathologic myopia (PM) eyes, and 33 PM with staphyloma (PM+S) eyes. For each eye, we imaged the macula using optical coherence tomography (OCT) under the baseline condition and under acute IOP elevation (to ∼40 mm Hg) achieved through ophthalmodynamometry. We manually aligned the scans (baseline and IOP elevation) using three vascular landmarks in the macula tissue. We then automatically segmented the sclera and the choroid tissues using a deep learning algorithm and extracted the sclera-choroid interface. We calculated the macula curvatures, determined by the radius of curvature of the sclera-choroid interface in the nasal-temporal and superior-inferior direction. Differences in macula curvatures between baseline and elevated IOP scans were calculated at corresponding locations, and the mean curvature difference was reported for each eye. IOP elevation resulted in a significantly higher macula curvature change along the nasal-temporal direction in the PM+S (13.5 ± 8.2 × 10-5µm-1), PM (9.0 ± 7.9 × 10-5µm-1), and HMG (5.2 ± 5.1 × 10-5µm-1) eyes as compared to HM (3.1 ± 2.7 × 10-5µm-1) eyes (all P < 0.05). Interestingly, HM and HMG eyes had the same curvature change in the nasal-temporal direction as emmetropic control eyes (4.2 ± 4.3 × 10-5µm-1). Our findings indicate that the macula in HMG, PM, and PM+S eyes showed greater curvature changes under IOP elevation compared to HM and emmetropic eyes. These preliminary results suggest that HM eyes with conditions such as glaucoma or staphyloma are more sensitive to acute IOP elevation.

Risk factors and prognostic analysis of vitreous cavity opacification after silicone oil removal.

This study aims to investigate the risk factors for postoperative vitreous cavity opacification following pars plana silicone oil removal and its impact on prognostic visual acuity. A retrospective case-control study was conducted. A total of 66 eyes from 66 patients were enrolled in the study. On the first postoperative day, all patients underwent a scanning laser ophthalmoscopy to assess the turbidity of the vitreous cavity. 42.42% (28/66) were categorized as Grade 0, 36% (24/66) as Grade I, and 21% (14/66) as Grade II, based on the visibility of posterior pole blood vessels. Ordered multiple classification logistic regression analysis was employed to investigate the impact of surgical and baseline factors on the occurrence and severity of vitreous cavity opacification. The presence of high myopia and the intraoperative combination of epiretinal membrane peeling exhibited significant correlations with the development of postoperative vitreous cavity opacification (OR = 3.424, 95% CI 2.326-31.643, P = 0.023; OR = 3.612, 95% CI 1.263-14.676, P = 0.031, respectively). The best corrected visual acuity (BCVA) on the first day post-surgery was significantly reduced across all degrees of opacification compared to the preoperative level (p < 0.001). However, no significant difference in BCVA was detected between the preoperative period, one-week post-operation, and the last follow-up (P > 0.05). High myopia and intraoperative epiretinal membrane peeling may be associated with the development of more severe vitreous cavity opacity following silicone oil removal. This opacity generally resolves within one week post-surgery and does not appear to increase the risk of retinal re-detachment.

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family

ABSTRACT Background Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life. Methods A consanguineous Pakistani family with three affected individuals underwent detailed clinical and genetic investigation. Results The proband, a 63-years old male, showed severely reduced day vision, a visual acuity of counting fingers (CF), color vision deficiency, high myopia and photophobia. Fundus images showed bilateral peripapillary atrophy, bilateral dull foveal reflex, tilted disc, tessellated fundus, and hyperfluorescence at the peripheral superior temporal arcade and leak at an early stage. OCT macula and angiography findings suggested traction near the disc in the right eye and sub-retinal fluid at the fovea in the left eye. Retinal layers were normal toward the periphery but disorganized near the disc. Full visual field tests showed bilateral central scotoma, while single visual field tests indicated bilateral generalized depression of the visual field. The proband showed normal bilateral intraocular pressure, normal choroidal vessels, and unremarkable anterior segment. Exome sequencing identified a novel homozygous missense variant (POC1B:NM_172240.3:c.1391T>C;p.L464P) in the proband. Existing evidence supported pathogenicity of the identified variant in the family. Conclusion In conclusion, we document a first-ever Pakistani family with POC1B-related cone dystrophy.

Accommodative behaviour and retinal defocus in highly myopic eyes fitted with a dual focus myopia control contactlens.

To evaluate the myopic and hyperopic defocus delivered to the retina by a dual focus (DF) myopia control contact lens when myopia exceeds 6.00 D. Individuals with high myopia were fitted bilaterally with high-powered DF lenses containing power profiles matching a Coopervision MiSight 1 day contact lens (omafilcon A) and a Coopervision Proclear 1 day single vision (SV) lens. Wavefront measurements along the primary line of sight and across the central ±20° of the horizontal retina were acquired using a pyramidal aberrometer, while subjects accommodated to high-contrast letter stimuli (6/12 equivalent) at six target vergences (-0.25 and -1.00 to -5.00 D). Linear mixed-effects regression models explored the relationship between the spherical equivalent refractive error (SERE) and induced defocus. Thirteen teenagers and young adults (ages 13-32 years, mean [standard deviation, SD] age = 22.8 [4.9] years) with high myopia (SERE -6.50 to -9.25 D) were tested. The treatment optic zone of the DF lens shifted retinal defocus by the expected -2.00 D, with a mean (SD) difference (DF-SV) of -2.21 (0.18) D for the inner treatment ring. Inclusion of the treatment optic had no significant impact on accommodative accuracy (p = 0.51). Accommodative lags were larger at the nearer viewing distances, with lag increasing by approximately 0.30 D for every additional dioptre of SERE. Measured retinal defocus within the annular treatment zone was approximately -2.00 D at the foveal centre, 10° nasal and temporal and 20° nasal and reduced to -1.90 (0.57) D at 20° temporal. Relative to eyes with lower levels of myopia, the increased accommodative lags and more prolate retinas of highly myopic eyes reduced the myopic retinal defocus from the DF myopia control lens, while the treatment optical zones generated the combined effect of reducing hyperopic and introducing myopic retinal defocus relative to an SV correction.

Challenges in identifying papilledema amid myopic peripapillary atrophy in a patient with idiopathic intracranial hypertension and high myopia: a case report

BackgroundIdiopathic intracranial hypertension (IIH) is a disease entity characterized by elevated intracranial pressure, which usually accompanied by papilledema. However, diagnosing papilledema can be challenging in patients with preexisting ocular conditions, such as high myopia.Case presentationA 39-year-old woman with a long-standing history of high myopia presented with visual field constriction. Her visual acuity was decreased in both eyes, and she also reported morning headaches, pulsatile tinnitus, and intermittent periocular pain. Although she was diagnosed with IIH based on a cerebrospinal fluid study, there was no evident papilledema, which may have been masked by myopic changes in optic nerve and peripapillary retinal nerve fiber layer. After treatment for IIH with acetazolamide, her visual field and visual acuity markedly improved, and her symptoms were relieved.ConclusionsIn highly myopic patients, myopic changes in optic nerve head may obscure papilledema, complicating the diagnosis of IIH. This unusual case highlights the need for detailed history taking and a comprehensive clinical evaluation in patients with high myopia. Clinicians should suspect IIH in the presence of symptoms such as pulsatile tinnitus, morning headache, and visual field constriction, even in the absence of evident papilledema.

Investigation of choroidal vascular alterations in eyes with myopia using ultrawidefield optical coherence tomography angiography

Background/aimsThe study aims to evaluate choroidal vascular changes in younger patients with myopia using ultrawidefield swept-source optical coherence tomography angiography (SS-OCTA).MethodsOverall, 724 eyes of 362 participants (177 males, 185 females,...

Circumpapillary OCT-based multi-sector analysis of retinal layer thickness in patients with glaucoma and high myopia

Glaucoma is the leading cause of irreversible blindness worldwide. The diagnosis process for glaucoma involves the measurement of the thickness of retinal layers in order to track its degeneration. The elongated shape of highly myopic eyes can hinder this diagnosis process, since it affects the OCT scanning process, producing deformations that can mimic or mask the degeneration caused by glaucoma. In this work, we present the first comprehensive cross-disease analysis that is focused on the anatomical structures most impacted in glaucoma and high myopia patients, facilitating precise differential diagnosis from those solely afflicted by myopia. To achieve this, a fully automatic approach for the retinal layer segmentation was specifically tailored for the accurate measurement of retinal thickness in both highly myopic and emmetropic eyes. To the best of our knowledge, this is the first approach proposed for the analysis of retinal layers in circumpapillary optical coherence tomography images that takes into account the elongation of the eyes in myopia, thus addressing critical diagnostic needs. The results from this study indicate that the temporal superior (mean difference 11.1μm, p<0.05), nasal inferior (13.1μm, p<0.01) and temporal inferior (13.3μm, p<0.01) sectors of the retinal nerve fibre layer show the most significant reduction in retinal thickness in patients of glaucoma and myopia with regards to patients of myopia.

Update on central factors in myopia development beyond intraocular mechanisms.

Myopia, a prevalent refractive error, primarily affects children and adolescents, characterized by excessive axial elongation causing distant objects to focus in front of the retina. This review explores the intricate mechanisms beyond intraocular factors, emphasizing the significant role of central factors in myopia development and progression. Intraocular mechanisms involving the retina, RPE/choroid, and sclera are well documented, with these structures playing crucial roles in eye growth regulation. Central factors, including brain structure and function alterations, are increasingly recognized, supported by advanced imaging techniques such as fMRI and rs-fMRI. Clinical findings highlight changes in brain activity and connectivity in high myopia (HM), suggesting neural plasticity or compensatory mechanisms. Animal studies further elucidate central mechanisms, indicating the involvement of specific brain nuclei like the visual cortex and suprachiasmatic nucleus. Understanding these complex interactions between intraocular and central mechanisms is crucial for developing novel therapeutic strategies to inhibit myopia progression and prevent associated complications. This review aims to provide a comprehensive analysis of current research, contributing to a deeper understanding of central factors of myopia.

Automated measurement and correlation analysis of fundus tessellation and optic disc characteristics in myopia

This study aims to quantify fundus tessellated (FT) density and optic disc (OD) morphology using deep learning (DL) techniques and to investigate the correlations between these fundus characteristics and refractive function in young patients with myopia. We constructed two DL-based segmentation models to delineate the FT, OD, peripapillary atrophy (PPA), and macula at a pixel-level resolution. The study sought to identify differences in fundus characteristics between eyes categorized as having high myopia versus mild or moderate myopia. Furthermore, the correlation between fundus measurements and various ocular parameters was statistically analyzed. Correlation analysis indicated that the spherical equivalent and axial length were significantly associated with all fundus measurements (p < 0.001). Additionally, corneal curvature (K1, K2), lens thickness, and foveal thickness exhibited significant correlations with some of the fundus measurements at a 0.01 significance level. Using DL algorithms, it is feasible to automatically quantify FT and OD characteristics in young myopic patients. The study findings suggest that both FT and OD characteristics are highly correlated with the severity of myopia, particularly as it progresses from mild or moderate to high levels. Moreover, a significant relationship exists between most of these fundus characteristics and a spectrum of refractive function parameters.

Analysis of intraocular lens tilt and decentration after cataract surgery in eyes with high myopia using the anterior segment optical coherence tomography

This retrospective study investigated the degree of intraocular lens (IOL) tilt and decentration after cataract surgery in eyes with varying degrees of myopia using the anterior segment optical coherence tomography (AS-OCT). Eyes of 76 patients were analyzed and divided into three groups: mild myopia (emmetropia to − 1.5 diopter [D], Group 1), moderate myopia (− 1.5 D to − 6.0 D, Group 2), and high myopia (over − 6.0 D, Group 3). Postoperative IOL decentration, tilt, and lens diameter were evaluated using swept-source AS-OCT under mesopic conditions without dilation eyedrop. Postoperative parameters revealed no difference in IOL tilt, but IOL decentration was significantly different among the groups, and the degree of decentration was greater in Group 3 (P = 0.007). Univariable regression analysis indicated that age, sex, preoperative uncorrected distant visual acuity, corrected distant visual acuity, intraocular pressure, spherical equivalent, preoperative anterior chamber depth and lens thickness had no influence on postoperative IOL decentration, but axial length (AL) was significantly related to IOL decentration (P = 0.001). This association was confirmed using multivariable regression analysis, establishing a significant correlation between AL and IOL decentration (P = 0.001) on AS-OCT, showing an increase in IOL decentration associated with increasing AL.

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.

Inherited retinal dystrophies (IRDs) are a common cause of blindness or severe visual impairment in children and may occur with or without systemic associations. The aim of the present study is to describe the phenotypic and genotypic spectrum of IRDs in a pediatric patient cohort in Retrospective single-center cross-sectional analysis. Presenting symptoms, clinical phenotype, and molecular genetic diagnosis were assessed in 309 pediatric patients with suspected IRD. Patients were grouped by age at genetic diagnosis (preschool: 0-6 years, n = 127; schoolchildren: 7-17 years, n = 182). Preschool children most frequently presented with nystagmus (34.5% isolated, 16.4% syndromic), no visual interest (20.9%; 14.5%), or nyctalopia (22.4%; 3.6%; p < 0.05); schoolchildren most frequently presented with declining visual acuity (31% isolated, 21.1% syndromic), nyctalopia (10.6%; 13.5%), or high myopia (5.3%; 13.2%). Pathogenic variants were identified in 96 different genes (n = 69 preschool, n = 73 schoolchildren). In the preschool group, 57.4% had isolated and 42.6% had syndromic IRDs, compared to 70.9% and 29.1% in schoolchildren. In the preschool group, 32.4% of the isolated IRDs were related to forms of Leber's congenital amaurosis (most frequent were RPE65 (11%) and CEP290 (8.2%)), 31.5% were related to stationary IRDs, 15.1% were related to macular dystrophies (ABCA4, BEST1, PRPH2, PROM1), and 8.2% to rod-cone dystrophies (RPGR, RPB3, RP2, PDE6A). All rod-cone dystrophies (RCDs) were subjectively asymptomatic at the time of genetic diagnosis. At schoolage, 41% were attributed to cone-dominated disease (34% ABCA4), 10.3% to BEST1, and 10.3% to RCDs (RP2, PRPF3, RPGR; IMPG2, PDE6B, CNGA1, MFRP, RP1). Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CEP290 (5.6% each), CDH23, BBS1, and BBS10 (3.7% each) being the most frequent in preschoolers, and USH2A (11.7%), BBS10 (7.8%), CEP290, CDHR23, CLRN1, and ICQB1 (3.9% each) being the most frequent in syndromic schoolkids. Vitreoretinal syndromic IRDs accounted for 29.6% (preschool: COL2A1, COL11A1, NDP (5.6% each)) and 23.5% (schoolage: COL2A1, KIF11 (9.8% each)), metabolic IRDs for 9.4% (OAT, HADHA, MMACHD, PMM2) and 3.9% (OAT, HADHA), mitochondriopathies for 3.7% and 7.8%, and syndromic albinism accounted for 5.6% and 3.9%, respectively. In conclusion we show here that the genotypic spectrum of IRDs and its quantitative distribution not only differs between children and adults but also between children of different age groups, with an almost equal proportion of syndromic and non-syndromic IRDs in early childhood. Ophthalmic screening visits at the preschool and school ages may aid even presymptomatic diagnosis and treatment of potential sight and life-threatening systemic sequelae.

Choroidal Thickness and Visual Acuity in High Myopia Without Myopic Maculopathy: Insights From a Chinese Population Study.

To evaluate the association of choroidal thickness (ChT) with best-corrected visual acuity (BCVA) in patients with high myopia (HM) and without myopic maculopathy. This study was a retrospective, cross-sectional study of participants aged 7 to 70years with bilateral HM but without myopic maculopathy. Swept-source optical coherence tomography was used to measure ChT at the fovea. A BCVA of logMAR 0.1 was regarded as the benchmark for normal. The association between ChT and BCVA was evaluated by linear regression models with confounders fully adjusted. Subgroup analyses were performed across sex and age groups. A total of 412 eligible participants were enrolled in this study. The mean age, spherical equivalence, and subfoveal (SF) ChT of the included participants were 21.17 ± 9.55years, -9.77 ± 2.40 diopters, and 171.56 ± 61.33µm, respectively. The SF ChT was thinner in participants with abnormal BCVA (normal. 176.74 ± 60.24 µm; abnormal, 139.30 ± 58.63µm). A thinner ChT in all subregions of the posterior pole of the Early Treatment Diabetic Retinopathy Study grid was associated significantly with a worse BCVA after adjusting for age, sex, and axial length (SF ChT: coefficient, × 10-4, -2.64; 95% confidence interval, -4.73 to -0.55; P < 0.05 in all subregions). The strongest correlation was observed in the outer inferior region, where a per 21µm thinning of ChT led to a 0.01 worsening of BCVA. This correlation presented a stronger magnitude in male aged more than 40years. In patients with HM without myopic maculopathy, a thinner ChT was associated independently with a worse BCVA. The findings of this study suggest that thinning ChT should be considered a vital risk factor for irreparable visual acuity impairment.

Morphology and incidence of drusen-like deposits in peripheral retina of eyes with high myopia.

To determine the morphology and incidence of peripheral drusen-like deposits (DLDs) in eyes with pathological myopia (PM) using ultra-widefield (UWF) fundus photographs and UWF optical coherence tomographic (OCT) images. Retrospective, observational case series study. We reviewed the medical records of 676 patients (1352 eyes) with high myopia (HM) who were examined in the Advanced Clinical Centre for Myopia between 2017 and 2021. The main outcome measures were the incidence and morphological characteristics of the DLDs in the peripheral retina detected by ultra-widefield (UWF) imaging devices. Sixty-six of the 1352 (4.9%) eyes had peripheral DLDs. In 5 eyes, the DLDs were found at the staphyloma edge. The mean age of the patients was 70.0 ± 13.0 (range, 46.0-92.0) years, and the mean axial length was 29.8 ± 2.4 mm. Myopic macular neovascularization (MNV) was found in 41 of the 66 eyes with DLDs (62.1%). Patients with drusen in Zone 2 were significantly older than those in Zone 3 (80 ± 13 vs 64 ± 13 years; P < 0.001). Ultra-widefield images showed that peripheral DLDs were present in 4.9% of highly myopic eyes. The findings in eyes with DLDs may provide a basis for the evaluations of the natural progression of peripheral retinal changes in eyes with PM.

Biomarkers: Promising Tools Towards the Diagnosis, Prognosis, and Treatment of Myopia.

The prevalence of myopia, especially high myopia, continues to increase in several parts of the world. Thus, the use of biomarkers for early myopia detection would be highly valuable for clinical practice aiding in the prevention and myopia control management. The identification of biomarkers that can predict the risk of myopia development, severity of myopia, and treatment response are of paramount significance. In this review, we present the current state of research on biomarkers and myopia, highlighting the challenges and opportunities in biomarkers research for myopia. Although myopia biomarkers may have a role as early indicators of myopia or treatment response, the adoption of biomarkers into myopia clinical practice may only be done when tests have high accuracy, are easily measurable, minimally invasive, and acceptable to parents, children, and eye care professionals. Large consortia studies are necessary to validate biomarkers and translate evidence into clinical practice.