Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity

Dyskeratosis congenita is a group of rare genetic bone marrow failure syndromes. Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia. We report the case of an 11-month-old boy with bilateral cicatricial retinal detachments associated with fibrovascular proliferation. Genetic testing ultimately confirmed a diagnosis of Revesz syndrome, which can mimic cicatricial retinopathy of prematurity. Prompt referral to a hematologist expedites diagnosis and treatment.