Abstract
BACKGROUND: To summarize the clinical features of early-onset high myopia (eoHM) in Chinese children. METHODS: Prospective observational study. Children with eoHM were enrolled in this study. After collecting a detailed medical history from the subjects, we comprehensively measured best-corrected visual acuity (BCVA), spherical equivalent (SE), and other ocular biological parameters. Whole-exome sequencing was performed on a portion of the probands with eoHM to identify potential pathogenic genes. RESULTS: A total of 232 children with early-onset myopia were included; among them, 122 (52.58%) had eoHM. The children with eoHM had a mean age of 4.2 ± 1.7 years, a mean BCVA of 0.65 ± 0.40 logMAR, a mean SE of -9.24 ± 3.48 D, a mean axial length (AL) of 24.94 ± 2.16 mm and a mean corneal curvature of 43.17 ± 2.00. Importantly, 59.02% (72/122) of the children with eoHM had other ocular or systemic diseases. The most common comorbidity of eoHM was lens dislocation (23/122, 18.85%), followed by inherited retinal degeneration (IRD) (14/122, 11.48%). Whole-exome sequencing was performed in 14 children with eoHM; hereditary eye disease-related genetic variants were found in all 14 children, and the variants in 92.86% (13/14) of the children were associated with the retina. CONCLUSIONS: The results of this study indicate that over half of the children with eoHM are complicated by other ocular or systemic diseases, with lens and fundus disorders being the most common.