When mild myopia hides a syndrome

Patient: 

• 8-year-old boy

Medical history:

• Born at term
• Good general health
• Myopia: −3.0 diopters

Reason for consultation:

• Reduction in visual acuity of the right eye

Ophthalmic examination:

Right eye:

• Best-corrected visual acuity (BCVA): Hand movements
• Fundus examination : Retinal detachment associated with a 180-degree superior giant retinal tear with retinal inversion

Left eye: 

• BCVA: 20/30
• Fundus examination: Attached retina with a membranous (veil-like) vitreous

Management: 

• 25-gauge pars plana vitrectomy with endolaser photocoagulation and silicone oil tamponade
• Genetic testing
• Suspected Stickler syndrome

Follow-up and management: 

• Genetic testing confirmed a pathogenic COL2A1 variant
• Genetic counseling was provided
• Silicone oil removal was performed at 3 months
• Prophylactic laser treatment of the fellow eye was strongly recommended