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: Elizabeth M McElnea, Nick van der Spek, Owen Smith, Susan Fitzsimon, Chetan K Patel, Aengus O'Marcaigh
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 17 Issue 6 Pg. 634-6 (Dec 2013) ISSN: 1528-3933 [Electronic] United States
• PMID: 24321428 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. All rights reserved.

Topics

• Child
• Diagnosis, Differential
• Dyskeratosis Congenita (diagnosis)
• Humans
• Male
• Retinal Detachment (diagnosis)
• Retinopathy of Prematurity (diagnosis)