PURPOSE. High myopia (HM) is defined as a refractive error worse than À6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. METHODS. A cross-sectional study involving 731 participants varying in refractive error, axial length (AL), age, myopic retinopathy, and visual impairment. The phenotypic traits were analyzed by four ophthalmologists while mutational screening was performed in eight autosomal causative genes. Finally, we assessed the clinical relevance of identified mutations under the guidance of the American College of Medical Genetics and Genomics. RESULTS. The relationship between refractive error and AL varied in four different age groups ranging from 3-to 85-years old. In adult groups older than 21 years, 1-mm increase in AL conferred 10.84% higher risk of pathologic retinopathy (Category ‡2) as well as 7.35% higher risk of low vision (best-corrected visual acuities <0.3) with P values < 0.001. The prevalence rates of pathologic retinopathy and low vision both showed a nonlinear positive correlation with age. Forty-five patients were confirmed to harbor pathogenic mutations, including 20 novel mutations. These mutations enriched the mutational pool of nonsyndromic HM to 1.5 times its previous size and enabled a statistically significant analysis of the genotypephenotype correlation. Finally, SLC39A5, CCDC111, BSG, and P4HA2 were more relevant to eye elongation, while ZNF644, SCO2, and LEPREL1 appeared more relevant to refracting media. CONCLUSIONS. Our findings shed light on how multiple HM-related phenotypes are associated with each other and their link with gene variants.

Aim. To report the treatment of 7 cases of unsealed hole after macular hole surgery with air-fluid exchange. Methods. Retrospective case series. We collected 7 eyes of 7 patients with unsealed hole an unsealed hole about 2 weeks after macular hole surgery (23G vitrectomy with internal limiting membrane peeling with sterilizing air tamponade) in our hospital from February 2018 to December 2018. All patients underwent “air-liquid exchange by free hand and one needle.” The prone position was taken one week after operation. The macular holes before and after operation were examined by frequency-domain optical coherence tomography (SD-OCT). Results. The size of the macular hole before vitrectomy was 481 ± 156 μm (range: 281–609 μm). Two weeks after vitrectomy (before air and liquid exchange), the size of the macular hole was 295 ± 92 μm (range: 210–421 μm). All macular holes were closed within 7–14 days after air-liquid exchange. There was no complaint of discomfort among these patients. Conclusion. From this preliminary study, air-liquid exchange by free hand and one needle seems to be safe and effective in the treatment for patients with unsealed and tiny macular hole after vitrectomy as the lack of long effective gas in China. However, the exact efficacy and safety need further large case studies.