A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a category of vitreoretinal diseases with a broad phenotypic spectrum ranging from subclinical peripheral vascular changes to total retinal detachments. We report the clinical and molecular genetic findings in a 43-year-old patient whose ocular findings were consistent with retinitis pigmentosa but genetic testing indicative of FEVR.

The patient underwent serial examinations over a 12-year period that included fluorescein angiography, electroretinophysiologic testing, and molecular genetic testing using a retinal dystrophy panel.

Repeated examinations demonstrated retinal pigmentary changes, arteriolar narrowing, and waxy disc pallor consistent with retinitis pigmentosa. Fluorescein angiography demonstrated peripheral non-perfusion, staining, and window defects, while electroretinogram and electro-oculogram were within normal limits. Genetic testing identified a novel heterozygous likely pathogenic nonsense variant in TSPAN12 gene, c.315T > A, p. (Cys105*).

This report highlights a novel TPSAN12 pathogenic variant causing atypical FEVR which manifests with a retinitis pigmentosa phenotype.