Novel CAPN5 mutation associated with bilateral retinal vasculopathy, peripheral non-perfusion, and a tractional retinal detachment in a 2-month-old girl.

PURPOSE: To report a novel CAPN5 mutation and clinical phenotype with infantile onset.

METHODS

Case report.

RESULTS

A full term, 2-month-old girl with no past medical or past ocular history was found to have bilateral retinal vasculopathy and peripheral non-perfusion, along with a tractional retinal detachment in her right eye without evidence of uveitis. She underwent successful surgical correction with lensectomy, translimbal vitrectomy, and meticulous release of the causative fibrotic hyaloid. Genetic testing revealed a novel missense mutation in CAPN5, c.385 G>A p.Gly129Arg within the catalytic domain of the encoded calpain-5 protease similar to previously reported mutations causing familial autosomal dominant neovascularization inflammatory vitreoretinopathy (NIV).

CONCLUSIONS

Our case adds to the previously identified CAPN5 mutations associated with NIV and expands upon the possible clinical phenotypes associated with mutations in this pleotropic gene.