Concurrent Wagner syndrome and retinopathy of prematurity

Purpose: To describe the clinical features of a patient with Wagner syndrome and a history of retinopathy of prematurity (ROP). Observations: A 23-year-old Hispanic male was referred for retina evaluation. The patient had a history of regressed ROP in both eyes that was never treated. The patient was born at 26-weeks gestational age and received supplemental oxygen as a neonate. He also reported a history of strabismus treated with surgery at 6 years of age. Best-corrected visual acuity was 20/30 in both eyes. Manifest refraction revealed −8.25 diopters of myopia in both eyes. Posterior segment examination demonstrated vitreous syneresis, a regressed temporal ridge, pigmented lattice degeneration, and atrophic holes in both eyes. Fluorescein angiography revealed temporal small vessel leakage and staining in both eyes without exudation. Electroretinography demonstrated reduced a- and b-wave amplitudes in both eyes. Optical coherence tomography of the macula revealed a blunted foveal contour in both eyes. Genetic testing revealed a heterozygous versican (VCAN) mutation: c.425C > T (p.Thr142Met). Conclusion and importance: The current case represents a rare combination of diseases and underscores the importance of considering concurrent retinal and vitreoretinal conditions in patients with a history of ROP.