title: Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity.
abstract: 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.
authors: Ophthalmology Department, Children's University Hospital Temple Street, Dublin, Ireland. Electronic address: mcelneaelizabeth@gmail.com.
authors: Elizabeth M
authors: EM
authors: McElnea
authors: Nick
authors: N
authors: van der Spek
authors: Owen
authors: O
authors: Smith
authors: Susan
authors: S
authors: Fitzsimon
authors: Chetan K
authors: CK
authors: Patel
authors: Aengus
authors: A
authors: O'Marcaigh
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis*; D006801:Humans; D008297:Male; D012163:Retinal Detachment / Q000175:diagnosis*; D012178:Retinopathy of Prematurity / Q000175:diagnosis*