Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

ABSTRACT: Coffin-Siris syndrome 9 (CSS9), a rare congenital disorder caused by SRY-related HMG-box 11 gene (SOX11) deficiency, is characterized by high phenotypic heterogeneity including a wide spectrum of organ anomalies. Pathogenic variants in SOX11 can induce ocular motor disorders and ocular deformities resulting in visual malfunctions. Here, we report a 10-year-old Chinese boy with early-onset high myopia (eoHM) and fundus tessellation changes with cone-rod cells dystrophy who presented with characteristic CSS phenotypes, including coarse facial features, neurodevelopmental disabilities, and fifth finger anomalies. By applying trio-based whole-exome sequencing, we identified a de novo variant in SOX11, NM_003108.4: c.1013 C>T, p. S338l, classified as likely pathogeni

SUBMITTER: Wu R 

PROVIDER: S-EPMC12417530 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature