Abstract: Objective To investigate the clinical presentation, diagnosis, treatment, and prognosis of children with Stickler syndrome to enable early diagnosis. Methods We retrospectively analyzed and summarized the medical records of a child with Stickler syndrome without retinal detachment and reviewed the relevant literature. He presented to our hospital with a complaint of decreased visual acuity in the left eye with visual distortion for 15 days, and was examined by optical coherence tomography and visual field and fundus fluorescein angiography in both eyes. Intraocular fluid examination and gene sequencing detected the COL2A1 variant c.1597C>T/ p.Arg533*(NM_001844.5), and he was diagnosed with Stickler syndrome type I. Retinal laser photocoagulation and intraocular pressure(IOP)lowering treatment were performed. Results After treatment, the child's visual acuity in the left eye returned to 0.5 and his IOP returned to normal. Conclusion Early treatment of Stickler syndrome in children is important. Genetic testing in any child for whom Stickler syndrome is suspected, as well as preventive treatment and regular multisystem follow-up, is recommended for patients who fit the relevant clinical picture, especially if they have high myopia before the age of 6 years.

Key words: Stickler syndrome, COL2A1 gene, High myopia, Retinal detachment