Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity

Elizabeth M McElnea; Nick van der Spek; Owen Smith; Susan Fitzsimon; Chetan K Patel; Aengus O'Marcaigh

doi:10.1016/j.jaapos.2013.07.016

Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity

J AAPOS. 2013 Dec;17(6):634-6. doi: 10.1016/j.jaapos.2013.07.016.

Authors

Elizabeth M McElnea¹, Nick van der Spek, Owen Smith, Susan Fitzsimon, Chetan K Patel, Aengus O'Marcaigh

Affiliation

¹ Ophthalmology Department, Children's University Hospital Temple Street, Dublin, Ireland. Electronic address: mcelneaelizabeth@gmail.com.

PMID: 24321428
DOI: 10.1016/j.jaapos.2013.07.016

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.

Publication types

Case Reports

MeSH terms

Child
Diagnosis, Differential
Dyskeratosis Congenita / diagnosis*
Humans
Male
Retinal Detachment / diagnosis*
Retinopathy of Prematurity / diagnosis*