Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.

Stickler syndrome is a rare connective tissue disorder with multisystem involvement. We describe the diagnosis and management of Stickler syndrome in a 39-year-old woman with unclassified bone-muscle dysplasia and no prior ocular history, presenting with floaters. Fundus examination showed radial lattice degenerations in both eyes and optical coherence tomography revealed bilateral foveal hypoplasia. Despite not having high myopia (only -4 Diopters in each eye), those funduscopic findings made us investigate further disease. A genetic test was made, and she was found to be heterozygous for the likely pathogenic variant c.1069-2A > T in the COL2A1 gene. Therefore, our patient was finally diagnosed with Stickler syndrome type 1. This case emphasizes the need to consider Stickler syndrome in adults with vitreoretinal degeneration and foveal hypoplasia, even in the absence of high myopia.