Case of Stickler syndrome in a child without retinal detachment

Introduction: Stickler syndrome is a rare form of hereditary generalised collagenopathies that manifests as ocular, skeletal, auditory and orofacial symptoms. It arises because of mutations in the procollagen genes COL2A1, COL9A1, COL9A2, COL9A3, COL11A1 and COL11A2. Patient presentation: An 11-year-old Chinese boy was referred to our hospital with a history of reduced and distorted vision. He had a history of amblyopia and high myopia by age 4 years. A comprehensive medical assessment was conducted which included complete systemic, ophthalmic, optometric examinations and genetic testing. The patient had characteristic signs of Stickler syndrome which include high myopia, a cataract, open-angle glaucoma, anterior high iris root insertion, membranous vitreous changes, peripheral retinal degeneration and foveal hypoplasia but no retinal detachment. No obvious auditory, orofacial, or skeletal abnormalities were found. Exome sequencing identified COL2A1 heterozygous splicing variation. He is a child of nonrelated parents. His mother is highly myopic. Management and outcome: After optometry assessment, amblyopia and myopia were corrected. Glaucoma medication was given, and retinal laser photocoagulation was performed. The patient's vision is currently stable. Conclusion: COL2A1 gene pathogenic splicing mutation was discovered in a Stickler syndrome type I patient with an ocular-only manifestation. Exome sequencing results indicated site c. 1597C>T/p. Arg533* (NM₀01844. 5) which is a heterozygous variant inherited from the mother. Contribution: In this report, we demonstrate how clinical presentation and molecular genetic tests are helpful in making the diagnosis of Stickler syndrome before retinal detachment.