Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.
M Puchol-Rizo, J Suárez-Baraza, A Muñoz-Gallego
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Case in brief
A 39-year-old woman with unclassified bone-muscle dysplasia and no previous ocular history presented with floaters. Examination showed radial lattice degeneration in both eyes, and optical coherence tomography demonstrated bilateral foveal hypoplasia. Her myopia was only −4 diopters in each eye. These ocular findings prompted genetic testing, which identified a heterozygous likely pathogenic COL2A1 variant, c.1069-2A>T. She was diagnosed with Stickler syndrome type 1.
What made this case unusual
The ocular findings led to a late diagnosis of Stickler syndrome despite the absence of high myopia, a feature that might otherwise make the syndrome less readily suspected.
Diagnostic / clinical pearl
In adults with vitreoretinal degeneration and foveal hypoplasia, consider Stickler syndrome even when high myopia is absent.