Nasal loop myopexy for management of exotropia-hypotropia complex associated with high myopia.

INTRODUCTION: Exotropia-hypotropia complex is an uncommon phenomenon associated with high myopia. However, some literature reports cases of the exotropia-hypotropia complex where residual hypotropia is managed through a secondary surgery following the conventional recession-resection of the lateral rectus (LR) and medial rectus (MR). Nasal Loop myopexy as a primary surgical procedure for the management of exotropia-hypotropia complex has been rarely reported in the literature. METHODS: A 24-year-old male with unilateral high myopia presented with a large angle exotropia-hypotropia complex with limitation of elevation in abduction in his left eye. His ocular deviation was successfully managed through a nasal loop myopexy of the superior rectus (SR) and MR using a non-absorbable suture, combined with large LR recession and MR resection. RESULTS: Postoperatively, the patient had satisfactory ocular alignment with improved hypotropia and normal elevation in abduction, contributing to enhanced binocular vision and better cosmesis. DISCUSSION: Managing the exotropia-hypotropia complex in the context of high myopia demands a comprehensive approach that addresses both vertical and horizontal deviations. The surgical strategy employed in this case, which included loop myopexy of SR and MR along with LR recession and MR resection, achieved positive outcomes regarding alignment, elevation, and binocular vision. The case supports variations in muscle path and the potential benefits of tailored surgical strategies for complex strabismus cases associated with high myopia.

Characteristics and Prognostic Factors Associated With the Progression of Myopic Traction Maculopathy in Mexican Patients.

Background In this study, the characteristics and prognostic factors associated with the progression of myopic traction maculopathy (MTM) were evaluated in a Mexican population. Methods This is a retrospective observational study that analyzed patients with MTM who underwent optical coherence tomography (OCT). Clinical-ocular information, the MTM classification, and initial and final visual acuity (VA) were recorded. Results In total, 101 eyes of 84 patients (mean age 63.5 ± 10.7 years) were included (88.1% female and 11.9% male). The mean spherical equivalent was -16.8 ± 6.4 D, axial length was 29.6 ± 2.1 mm, and mean initial VA was 0.8 ± 0.5 logMAR. The mean follow-up time was 25.7 ± 27.6 months. The change in final VA from diagnosis to the last follow-up was +0.1 (0.2) (p = 0.001). Overall, 24.8% of patients progressed, 72.3% did not progress, and 3% showed regression. The patient-year progression rate was 0.20 ± 0.44. Factors associated with progression were initial logMAR VA (p= 0.012) and staphyloma (p= 0.001). Conclusions One in four patients with MTM progressed, and the patient-year progression rate was 0.5. The factors associated with disease progression were initial VA and the presence of staphyloma. The characteristics of Mexican patients with MTM are similar to those described in other populations.

Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

PURPOSE: To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous LOXL3 pathogenic variant. Atypically, this was from a paternal uniparental isodisomy (UPiD) of chromosome 2. CLINICAL CASE: Four-year-old boy with several months history of holding items close to his face was found to have reduced visual acuity 6/30 in both eyes, bilateral vitreous syneresis, foveal hypoplasia and bilateral high myopia (-8.50D). A skeletal survey showed spondylo-epi-metaphyseal dysplasia. Whole-exome sequencing (WES) revealed a homozygous LOXL3 variant c.1448_1449del, p.(Thr483Argfs*13), inherited through paternal UPiD of chromosome 2. CONCLUSION: To our knowledge, this is the first reported case of LOXL3-associated eoHM, foveal hypoplasia and mild skeletal dysplasia due to the rare phenomenon of paternal UPiD of chromosome 2. This case further delineates the phenotype associated with LOXL3 pathogenic variants and supports truncating LOXL3 pathogenic variants being associated with a phenotypic spectrum; from isolated eoHM through to a Stickler syndrome-like phenotype.

In-vivo high-frequency quantitative ultrasound-derived parameters of the anterior sclera correlated with level of myopia and presence of staphyloma.

BACKGROUND: A high-frequency point-of-care (POC) ultrasound instrument was used to evaluate the microstructural and biomechanical properties of the anterior sclera in vivo using parameters computed from quantitative ultrasound (QUS) methods. METHODS: In this cross-sectional study, both eyes of 85 enrolled patients were scanned with the POC instrument and ultrasound data were processed to obtain QUS parameters. Pearson correlation and multi-linear regression were used to identify relationships between QUS parameters and refractive error (RE) or axial length. After categorising eyes based on RE, binary support vector machine (SVM) classifiers were trained using the QUS or ophthalmic parameters (anterior chamber depth, central corneal thickness, corneal power, and intraocular pressure) to classify each eye. Classifier performance was evaluated by computing the area under the receiver-operating characteristic curve (AUC). RESULTS: Individual QUS parameters correlated with RE and axial length (p < 0.05). Multi-linear regression revealed significant correlation between the set of QUS parameters and both RE (R = 0.49, p < 0.001) and axial length (R = 0.46, p = 0.001). Classifiers trained with QUS parameters achieved higher AUC (𝑝 = 0.06) for identifying myopic eyes (AUC = 0.71) compared to classifiers trained with ophthalmic parameters (AUC = 0.63). QUS-based classifiers attained the highest AUC when identifying highly myopic eyes (AUC = 0.77). CONCLUSIONS: QUS parameters correlate with progressing myopia and may be indicative of myopia-induced microstructural and biomechanical changes in the anterior sclera. These methods may provide critical clinical information complementary to standard ophthalmic measurements for predicting myopia progression and risk assessment for posterior staphyloma formation.

Positive and Negative Associations of Myopia with Ocular Diseases in Population-Based Studies.

OBJECTIVE: Prevalence of myopia and vision impairment due to myopic macular degeneration and myopia-related optic neuropathies have markedly increased worldwide. We evaluated whether myopia is associated with the prevalence of other ocular disorders in a positive or negative sense. DESIGN: Population-based studies conducted in Russia, China and India. PARTICIPANTS: The Russian Ural Eye and Medical Study (UEMS) and the Beijing Eye Study (BES) included 5899 individuals and 4439 individuals (all aged 40+ years), respectively, and the Central India Eye and Medical Study (CIEMS) consisted of 4711 individuals, aged 30+ years. The studies were conducted in rural and urban regions in Bashkortostan/Russia, Nagpur/India, and Beijing/China. METHODS: The participants underwent a series of ophthalmological and general medical examinations. MAIN OUTCOME MEASURES: Axial length as surrogate for myopia, and prevalence of diabetic retinopathy (DR), age-related macular degeneration (AMD), angle-closure glaucoma (ACG), and open-angle glaucoma (OAG). RESULTS: In the UEMS, DR prevalence (OR:0.73;95%CI:0.56,0.96), AMD prevalence (OR:0.85;95%CI:0.74,0.98) and ACG prevalence (OR:0.72;95%CI:0.55,0.95) decreased, and OAG prevalence (OR:1.65;95%CI:1.45,1.88) increased with longer axial length in multivariable analyses. In the CIEMS, lower AMD prevalence (OR:0.81;95%CI:0.69,0.95) and lower ACG prevalence (OR:0.55;95%CI:0.36,0.83), and higher OAG prevalence (OR:1.45;95%CI:1.15,1.83) were associated with longer axial length. DR prevalence (0.33%;95%CI:0.16,0.50) was too low for statistical analysis in the CIEMS. In the BES, prevalence (OR:0.64;95%CI:0.50,0.81) and 10-year incidence of DR (OR:0.48;95%CI:0.33,0.71) and prevalence (OR:0.83;95%CI:0.77,0.89) and 5-year incidence of AMD (OR:0.996;95%CI:0.993,0.999) decreased, and prevalence (OR:1.35;95% CI:1.17,1.56) and 10-year incidence of OAG (OR:1.40;95%CI:1.22,1.61) increased with longer axial length. In all three studies, the association between higher OAG prevalence and longer axial length was nonlinear with a slight increase for the moderate myopia range, and a steep increase in the highly myopic range. CONCLUSIONS AND RELEVANCE: Myopia is associated with a lower prevalence of DR, AMD and ACG and lower incidence of DR and AMD, while high myopia more than moderate myopia is associated with a higher prevalence and incidence of OAG. Future studies may assess whether in myopia, in particular in moderate myopia, the myopia-related advantages, i.e., lower prevalence of DR, AMD and ACG, may outweigh the increased risks for OAG and other myopia-related disorders.

Clinical Outcomes of Transepithelial Photorefractive Keratectomy Performed with Smart Pulse Technology for the Correction of Moderate to High Myopia.

Purpose: To evaluate the safety and efficacy of the transepithelial photorefractive keratectomy (TransPRK) performed using smart pulse technology (SPT) in myopic eyes with refractive error ranging from -5.25 D to -9.75 D. Methods: This retrospective study evaluated the outcomes of SPT-assisted TransPRK in 150 eyes performed using a 1050 Hz AMARIS excimer laser. Results: At 6 months postoperative, 98% of eyes achieved uncorrected distance visual acuity (UDVA) of 20/25 or better, and postoperative UDVA within one line of preoperative corrected distance visual acuity (CDVA). No eyes lost any line of CDVA. Residual spherical equivalent refraction and cylinder within ±0.50 D of intended correction were achieved in 72% and 67% of eyes, respectively. Ninety-seven percent of eyes reported no halos and glare. Conclusions: TransPRK using a 1050 Hz excimer laser with SPT showed excellent predictability, safety, and efficacy for moderate to high myopia correction.

Comparing the accuracy of intraocular lens power calculation formulas using artificial intelligence and traditional formulas in highly myopic patients: a meta-analysis.

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.

The Importance of Posterior Hyaloid Removal in a Case of Vitrectomy for Floaters in High Myopia.

A 61-year-old Malaysian Chinese man who has high myopia complained of both eye floaters. Spectral-domain optical coherence tomography (SD-OCT) of the macula showed bilateral posterior staphyloma with right eye (RE) foveoschisis without macula detachment, which had been stable for a seven-year follow-up. When bilateral YAG laser vitreolysis could not alleviate his symptoms, he underwent pars plana vitrectomy with the inducement of posterior vitreous detachment, first in the left eye, followed by the RE one month later. The best-corrected visual acuity for both eyes was 6/6, N5 two months postoperatively, and he was asymptomatic for floaters. However, six months postoperatively, he complained of metamorphopsia and worsening RE vision. Repeat OCT showed worsening of the foveoschisis bilaterally with left foveal detachment. The patient had to undergo a repeat vitrectomy with peeling of the internal limiting membrane (ILM) in bilateral eyes, which successfully restored his foveal architecture and alleviated his symptoms. This article highlights theimportance of preoperative OCT assessment of the fovea in patients undergoing vitrectomy for floaters, as staining and complete removal of posterior hyaloid with ILM peeling during vitrectomy may mitigate the progression of foveoschisis after core vitrectomy for floaters in myopic patients.

Identification of LRRC46 as a novel candidate gene for high myopia.

High myopia (HM) is the primary cause of blindness, with the microstructural organization and composition of collagenous fibers in the cornea and sclera playing a crucial role in the biomechanical behavior of these tissues. In a previously reported myopic linkage region, MYP5 (17q21-22), a potential candidate gene, LRRC46 (c.C235T, p.Q79X), was identified in a large Han Chinese pedigree. LRRC46 is expressed in various eye tissues in humans and mice, including the retina, cornea, and sclera. In subsequent cell experiments, the mutation (c.C235T) decreased the expression of LRRC46 protein in human corneal epithelial cells (HCE-T). Further investigation revealed that Lrrc46-/- mice (KO) exhibited a classical myopia phenotype. The thickness of the cornea and sclera in KO mice became thinner and more pronounced with age, the activity of limbal stem cells decreased, and microstructural changes were observed in the fibroblasts of the sclera and cornea. We performed RNA-seq on scleral and corneal tissues of KO and normal control wild-type (WT) mice, which indicated a significant downregulation of the collagen synthesis-related pathway (extracellular matrix, ECM) in KO mice. Subsequent in vitro studies further indicated that LRRC46, a member of the important LRR protein family, primarily affected the formation of collagens. This study suggested that LRRC46 is a novel candidate gene for HM, influencing collagen protein VIII (Col8a1) formation in the eye and gradually altering the biomechanical structure of the cornea and sclera, thereby promoting the occurrence and development of HM.

Repeated Low-Level Red-Light Therapy for Myopia Control in High Myopia Children and Adolescents: A Randomized Clinical Trial.

OBJECTIVE: To assess the effectiveness and safety of repeated low-level red light (RLRL), which is a newly available treatment for myopia control in children and adolescents with high myopia. DESIGN: Multicenter, randomized, parallel-group, single-blind clinical trial (RCT; NCT05184621). PARTICIPANTS: Between February 2021 and April 2022, 192 children aged 6 to 16 years were enrolled. Each child had at least one eye with myopia of cycloplegic spherical equivalent refraction (SER) at least -4.0 diopters, astigmatism of 2.0 diopters or less, anisometropia of 3.0 diopters or less, and best-corrected visual acuity of 0.2 logarithm of the minimum angle of resolution or better. Follow-up was completed by April 2023. METHODS: Participants were randomly assigned at a 1:1 ratio to intervention (RLRL treatment plus single-vision spectacles) or control (single-vision spectacles) groups. The RLRL treatment was administered for 3 minutes per session, twice daily with a minimum interval of 4 hours, 7 days per week. MEAN OUTCOMES AND MEASURES: The primary outcome and key secondary outcome were changes in axial length and cycloplegic SER measured at baseline and the 12-month follow-up visit. Participants who had at least 1 post randomization follow-up visit were analyzed for treatment efficacy. RESULTS: Among 192 randomized participants, 188 (97.91%) were included in the analyses (97 in the RLRL group and 95 in the control group). After 12 months, the adjusted mean change in axial length was -0.06 mm (95% confidence interval [CI]: -0.10 to -0.02 mm) and 0.34 mm (95% CI: 0.30 to 0.39 mm) in the intervention and control groups, respectively. There were 48 participants (50.3%) of the intervention group were still experiencing axial shortening more than 0.05mm at 12-month follow-up. Furthermore, the mean spherical equivalent refraction change after 12 months was 0.11 D (95% CI: 0.02 to 0.19 D) and -0.75 D (95% CI: -0.88 to -0.62 D) in the intervention and control groups, respectively. CONCLUSIONS: RLRL demonstrates much stronger treatment efficacy among high myopia, with 50.3% experience substantial axial shortening. RLRL provides an excellent solution for the management of high myopia progression, a significant challenge in ophthalmology practice.

Effectivity and safety of trifocal intraocular lenses and capsular tension rings implantation for cataract patients with axial high myopia.

AIM: To assess effectivity and safety of trifocal intraocular lenses (IOLs) and capsular tension rings in treating cataract patients with axial high myopia. METHODS: A prospective nonrandomized controlled clinical trial was conducted. Totally 98 eyes (74 patients) who underwent femtosecond laser-assisted cataract surgery (FLACS) with trifocal IOLs were enrolled in the study and followed up for 2y after surgery: 46 eyes (33 patients) with capsular tension ring implantation in the long axial lengths (AL) group (260.05). The dysfunctional lens index and total modulation transfer function (MTF) average height were similar between the two groups. The postoperative internal coma aberrations in the axial high myopia eyes were significantly higher than that in the normal AL group (P<0.05). The total satisfaction score in the long AL group (91.32±2.76) was slightly higher than that in the normal AL group (90.36±3.47), but there was no difference (P=0.136). A statistically negative correlation was found between corrected distance visual acuity (CDVA) and dysfunctional lens index (r=-0.382, P=0.009), and between CDVA and the total MTF average height (r=-0.374, P=0.01). But there was no significant correlation between CDVA and total satisfaction score (r=0.059, P=0.696). Postoperative complications mainly presented as posterior capsular opacity (PCO), retinal detachment and cystoid macular edema. There was no difference in the incidence of fundus disease (6.5% vs 3.8%, P=0.663) or PCO (17.4% vs 7.7%, P=0.217) between the two groups at two years. CONCLUSION: The utilization of trifocal IOL and capsular tension ring implantation is beneficial for cataract patients with axial high myopia undergoing FLACS. This approach not only ensures excellent subjective feelings and objective visual quality, but also does not increase the incidence of postoperative complications.

Circulating Autoantibody Profiling Identifies LIMS1 as a Potential Target for Pathogenic Autoimmunity in pathologic Myopia.

High myopia is a leading cause of blindness worldwide, among which pathologic myopia, characterized by typical myopic macular degeneration, is the most detrimental. However, its pathogenesis remains largely unknown. Here, using a HuProt array, we first initiated a serological autoantibody profiling of high myopia and identified 18 potential autoantibodies, of which anti-LIMS1 autoantibody was validated by a customized focused microarray. Further subgroup analysis revealed its actual relevance to pathologic myopia, rather than simple high myopia without myopic macular degeneration. Mechanistically, anti-LIMS1 autoantibody predominantly belonged to IgG1/IgG2/IgG3 subclasses. Serum IgG obtained from patients with pathologic myopia could disrupt the barrier function of retinal pigment epithelial cells via cytoskeleton disorganization and tight junction component reduction, and also trigger a pro-inflammatory mediator cascade in retinal pigment epithelial cells, which were all attenuated by depletion of anti-LIMS1 autoantibody. Together, these data uncover a previously unrecognized autoimmune etiology of myopic macular degeneration in pathologic myopia.

Posterior scleral reinforcement surgery effectively slows the rate of high myopic progression in children.

PURPOSE: To investigate the rate of axial length elongation and high myopia progression in operated eyes before and after posterior scleral reinforcement (PSR) surgery. METHODS: This was a retrospective study. Children with pathological myopia treated with PSR at Beijing Tongren Hospital between May 2013 and May 2020 were recruited into the PSR surgery group. Children matched for age and myopia were recruited into the control group. All children underwent comprehensive ophthalmologic examinations. The presurgical and postsurgical rates of axial length elongation and myopic (spherical equivalent) progression were calculated. RESULTS: A total of 35 PSR patients were included in the study. The mean age was 6.5±3.0 years (range 2 to 14 years). Mean follow-up was 544 days (range 216 to 1657 days). The rate of axial length elongation was significantly less after posterior scleral reinforcement surgery (0.505±0.048mm per year prior to surgery; 0.382±0.045mm per year after surgery, P<0.001). The rate of myopic progression decreased after posterior scleral reinforcement surgery (1.162±0.118 D per year prior to surgery; 0.153±0.437 D per year after surgery, P=0.0239). There was no statistically significant difference in axial length elongation or myopic progression between pre-inclusion and post-inclusion in the control group. Moreover, the children's best-corrected visual acuity was significantly improved after posterior scleral reinforcement surgery (P<0.001). CONCLUSION: Posterior scleral reinforcement surgery effectively decreased the rate of high myopic progression and axial length elongation in children.

Nonperfusion of the Far Peripheral Retina in Highly Myopic Stickler Syndrome.

Purpose: To describe the clinical course of 3 patients with Stickler syndrome found on fluorescein angiography (FA) to have nonperfusion of the peripheral retina. Methods: Three patients with confirmed Stickler syndrome were examined under anesthesia. Genetic testing and FA were performed. Results: Each patient had characteristic ocular findings of Stickler syndrome, including high myopia with vitreoretinal degeneration. FA was performed on each patient and showed 360 degrees of nonperfusion of the retinal periphery in all eyes, with mild leakage in Case 3. Conclusions: The current series presents evidence of peripheral retinal nonperfusion in 3 consecutive patients with Stickler syndrome. Based on these findings, the authors recommend adopting FA as a standard imaging modality and using laser photocoagulation to treat the areas of retinal nonperfusion for all patients with Stickler syndrome.

Multimodal imaging of optic nerve head abnormalities in high myopia.

Highly myopic optic nerve head (ONH) abnormalities encompass a series of complications resulting from the stretching of papillary and peripapillary structures during significant axial elongation. The morphological changes in the ONH typically initiate with disk tilting or rotation, progressing to PHOMS and PPA. Tissue defects in each layer manifest as focal lamina cribrosa defects (FLDs), peripapillary intrachoroidal cavitations (PICCs), and acquired pits of the optic nerve (APON). Anterior vitreous/vascular traction and posterior scleral protrusion may lead to prelaminar schisis as well as paravascular cysts and holes, which can potentially develop into retinoschisis. Traditional color fundus photography (CFP) is often insufficient for visualizing most of these lesions, yet their description and quantification benefit significantly from the advancements in optical coherence tomography (OCT) and OCT angiography (OCTA), complemented by fundus autofluorescence (FAF), indocyanine green angiography (ICGA), and three-dimensional imaging. The effective diagnosis and classification of ONH abnormalities heavily rely on a comprehensive understanding of their multimodal imaging features, as outlined in this review. These findings provide valuable insights into optic neuropathy in high myopia, establishing a solid foundation for future endeavors in disease monitoring and treatment guidance.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders with a similar clinical picture because of their genetic and phenotypic heterogeneity. We describde the genotype-phenotype correlation of one patient from a healthy Chinese family with a novel genotype underlying CSS, who was first diagnosed in the ophthalmology department as early-onset high myopia (eoHM). Comprehensive ophthalmic tests as well as other systemic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. Real-time quantitative PCR (RT-qPCR) technology was used to detect the relative mRNA expression levels of candidate genes between proband and normal family members. The pathogenicity of the identified variant was determined by The American College of Medical Genetics and Genomics (ACMG) guidelines. STRING protein-protein interactions (PPIs) network analysis was used to detect the interaction of candidate gene-related proteins with high myopia gene-related proteins. The patient had excessive eoHM, cone-rod dystrophy, coarse face, excessive hair growth on the face, sparse scalp hair, developmental delay, intellectual disability, moderate hearing loss, dental hypoplasia, patent foramen ovale, chronic non-atrophic gastritis, bilateral renal cysts, cisterna magna, and emotional outbursts with aggression. The genetic assessment revealed that the patient carries a de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients. The test results of RT-qPCR showed that mRNA expression of the ARID1B gene in the proband was approximately 30% lower than that of the normal control in the family, suggesting that the variant had an impact on the gene function at the level of mRNA expression. The variant was pathogenic as assessed by ACMG guidelines. Analysis of protein interactions in the STRING online database revealed that the ARID1A protein interacts with the high myopia gene-related proteins FGFR3, ASXL1, ERBB3, and SOX4, whereas the ARID1A protein antagonizes the ARID1B protein. Therefore, in this paper, we are the first to report a de novo heterozygous frameshift insertion variant in the ARID1B gene causing CSS with excessive eoHM. Our study extends the genotypic and phenotypic spectrums for ARID1B-CSS and supplies evidence of significant association of eoHM with variant in ARID1B gene. As CSS has high genetic and phenotypic heterogeneity, our findings highlight the importance of molecular genetic testing and an interdisciplinary clinical diagnostic workup to avoid misdiagnosis as some disorders with similar manifestations of CSS.

Biological ultrathin amniotic membrane flap to close refractory macular holes associated with high myopia.

PURPOSE: To propose an ultrathin biological amniotic membrane (btAM) thinner than 10 µm as the graft to treat highly myopic macular holes (MH). METHODS: This pilot study included 14 patients affected by refractory macular holes associated with high myopia. btAM was used as a bandage covering the holes. The best-corrected visual acuity (BCVA), fundus photography, and optical coherence tomography (OCT) before and after surgery were compared. RESULTS: The mean MH size was 865.93 ± 371.72 µm and all the MHs achieved anatomical closure. The btAM located centrally and fully on MHs from fundus photography yet no obvious visual masking was complained. The average BCVA 1 month, 3, and 6 months after surgery were 0.95 ± 0.24, 0.92 ± 0.23, 0.92 ± 0.23 logMAR, respectively, improved significantly compared to pre-operative BCVA (1.24 ± 0.42 logMAR, all P < 0.05). Ten out of 14 (71.4%) exhibited 2C closure patterns (formally closed and no bare RPE) on OCT. CONCLUSION: The btAM thinner showed a favorable anatomical success with less risk of parafoveal atrophy or iatrogenic injuries and shortened the dissolving time.

Link between parental myopia and early-onset high myopia: Insights from a clinical retrospective analysis.

INTRODUCTION: Genetic aetiology is suspected in the development of early-onset high myopia (spherical equivalent refractive error [SER] ≤-6.00 D at ≤6 years of age), considering that the role of environmental factors in inducing high myopia is improbable at an early age. Therefore, we aimed to understand if early-onset high myopia is associated with parental myopia in a clinical setting. METHODS: A retrospective study was conducted in which information about demographics, age of apparent onset of myopia, refractive error, axial length, number of myopic parents, time spent outdoors and time spent on near-work was obtained from electronic medical records (EMR). It included 195 myopic individuals categorised into (1) Early-onset high myopes (EOHM): SER ≤ -6.00 D with age of presentation ≤6 years, (2) Early-onset low myopes (EOLM): SER > -6.00 D with age of apparent onset ≤6 years, (3) Late-onset high myopes (LOHM): SER ≤ -6.00 D with age of presentation and age of apparent onset >6 years and (4) Late-onset low myopes (LOLM): SER > -6.00 D with age of apparent onset >6 years. RESULTS: Overall, 63% of individuals were found to have parental myopia. The proportion of individuals with EOHM, EOLM, LOHM and LOLM with parental myopia was 57%, 74%, 53% and 64%, respectively. After adjustment for age, gender and environmental factors, the odds of development of EOHM (Odds ratio: 0.78, 95% confidence interval: 0.25-2.48), EOLM (1.54, 0.65-3.67) or LOHM (0.70, 0.30-1.65) were similar in the presence of myopic parents, when compared with LOLM. The SER and axial length did not differ based on the number of myopic parents in any of these categories. CONCLUSION: This retrospective analysis reveals that the presence of parental myopia, which was self-reported, did not induce additional risk for early-onset high myopia.

Reduced contrast sensitivity function is correlated with changes to cone photoreceptors in simple high myopia.

Purpose: To investigate the contrast sensitivity function (CSF) changes in simple high myopia (SHM) and evaluate the correlations between these changes with the early changes in the retinal microstructure. Methods: This prospective study comprised 81 subjects, 20 with emmetropia (EM), 26 with low myopia and moderate myopia (LM/MM), and 35 with SHM. The area under the log CSF curve (AULCSF) and the cut-off spatial frequency (Cut-off SF) were employed as measures of CSF. Adaptive optics (AO) was employed to quantify the cone density, spacing, and regularity. The thickness and blood flow of the retinal sublayers were determined from vertical and horizontal optical coherence tomography angiography (OCTA) A-scans. Swept-source optical coherence tomography (SS-OCT) was employed to analyze the choroidal thickness (CT) and choroidal vascularity using a custom algorithm. Differences in the retinal and choroidal parameters, cone distribution, AULCSF, and Cut-off SF were compared among the three groups. Multivariate linear mixed models were used to elucidate the associations between photoreceptor morphological alterations, retinal and choroidal parameters, and AULCSF. Results: The AULCSF and Cut-off SF were significantly lower in the SHM group compared to the EM and LM groups (p < 0.05). The SHM group had less cone density, larger cone spacing, and lower cone regularity than the EM and LM/MM groups (p < 0.05). Moreover, the thickness of the inner segment of photoreceptors (IS), retinal pigment epithelium (RPE) layer and choroid were reduced, and the outer segment of photoreceptors (OS) was thicker in the SHM group compared to the EM and LM/MM groups (all p < 0.05). A longer axial length (AL) was correlated with decreased AULCSF, cone density, and cone spacing (r = -0.800 to 0.752, all p < 0.050). Additionally, decreased CSF was correlated with lower cone density (r = 0.338, p = 0.035). Conclusion: Decreased contrast sensitivity was observed in patients with SHM and cone density was significantly correlated with reduced AUCSF.

Temporal Protrusion of the Optic Disc Implicated in Central Visual Field Abnormalities in High Myopia: Two Case Reports.

Introduction: Severe central visual field defects are frequently observed in highly myopic eyes. This report details 2 cases of central visual field defects in individuals with high myopia, characterized by an unusual temporal protrusion of the optic disc, a feature not previously documented. Case Presentation: Two patients, a 54-year-old man and a 65-year-old woman, were diagnosed with high myopia in their left eyes, displaying an outward protrusion of the optic disc toward the macula. Swept-source optical coherence tomography revealed a focal lamina cribrosa defect at the temporal edge of the protruding optic disc, corresponding to the papillomacular bundle area of retinal nerve fibers, which exhibited thinning around the focal lamina cribrosa defect. Visual field examination indicated a central visual field defect in the affected eyes, which pattern corresponded to the papillomacular bundle responsible area. Conclusion: The emergence of a temporal protrusion in the optic disc may lead to a focal lamina cribrosa defect, resulting in a central visual field defect in highly myopic eyes. This distinctive optic disc feature may constitute a critical risk factor for a central visual field defect. Hence, optic disc protrusion in high myopia warrants attention, necessitating careful ophthalmic examinations for central visual field defects.