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ABSTRACT: Purpose
To report a Coats-like exudative vitreoretinopathy in Goldmann-Favre syndrome.Observations
A 64 year-old woman with prior diagnosis of retinal dystrophy presented with decreased vision in the right eye (OD). Ophthalmologic examination was remarkable for bilateral arteriolar attenuation, mid-peripheral bony-spicules, and waxy disc pallor. Coats-like exudative vitreoretinopathy and cystoid macular edema were present OD. Genetic testing showed a homozygous pathogenic mutation in gene NR2E3, variant c.932G>A (p.Arg311Gln), consistent with Goldmann-Favre syndrome. Targeted laser ablation and combination intravitreal therapy were effective in decreasing macular edema.Conclusions and importance
A Coats-like exudative vitreoretinopathy may occur in the settin
SUBMITTER: Nieves FR
PROVIDER: S-EPMC8859797 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature