The Masquerading Retinopathy of Revesz Syndrome

Revesz syndrome is a rare telomeropathy characterized by bone marrow failure and exudative retinopathy. We report the case of a 2-year-old male child, initially treated with bilateral laser photocoagulation for retinopathy of prematurity. He developed exudative changes in the right eye, presumed to be Coats disease. Later, the left eye developed a total vitreous hemorrhage. Proliferative retinopathy was noted intraoperatively. Systemic features of bone marrow failure, growth retardation, and nail pigmentation were present. Genetic testing confirmed the diagnosis of Revesz syndrome. We describe our approach to diagnosis and surgical management of the case.

Automated summary

This study reports a case of Revesz syndrome, characterized by bone marrow failure, exudative retinopathy, and other systemic features. Genetic testing confirmed the diagnosis of Revesz syndrome.