Stickler syndrome is a “hereditary progressive arthro-ophthalmopathy”¹ caused in the majority of cases by mutations of the COL2A1 gene encoding for type II collagen.² The disease is transmitted as an autosomal dominant trait with high penetrance but variable expressivity.³ Most common ocular manifestations of the disease are myopia, vitreous veils and degeneration, early cataract, retinal peripheral breaks and retinal detachment.^3,4

Case report

This patient had typical ocular and extraocular clinical manifestations of Stickler syndrome. She was fitted with contact lenses (−17.00 dioptres) at the age of 1 month. Despite the relatively poor vision, hearing impairment and skeletal problems, she developed well mentally and attended regular school. With glasses (−15.00) the visual acuity (VA) was stable, around 6/21 (20/75) for distance and J2 for near in both eyes.

A mild central opacity of the posterior lens capsule was initially observed in both eyes when she was 7 years old (fig 1A). The IOP was 12 mm Hg, …