Early Onset High Myopia in a Child with Stickler Syndrome Type II: A Case Report

Stickler syndrome is a rare genetic disorder that affects the connective tissue of different body systems. It is characterised by moderate to severe myopia, cataract, retinal detachment, hearing loss, facial dysmorphic features, cleft palate, and joint problems. Mutations in collagen genes including COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, BMP4, and LOXL3 are associated with Stickler syndrome. Herein, we report the case of a 9-year-old girl with Stickler syndrome, who presents early onset of high-myopia and a mildly depressed nasal bridge. No hearing disorder was found, no abnormalities in bones and joints, and her communication and learning capability were also normal. To identify the underlying genetic cause, Whole Exome Sequencing (WES) was carried out using genomic DNA extracted from patient’s blood. A likely pathogenic heterozygous missense variant of the COL11A1 gene (NM_001854.4: c.1927G>C), which had not been previously reported, was identified in the patient. The patient was subsequently diagnosed with Stickler syndrome Type II.