• J AAPOS · Dec 2013

    Case Reports

    Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity.

    • Elizabeth M McElnea, Nick van der Spek, Owen Smith, Susan Fitzsimon, Chetan K Patel, and Aengus O'Marcaigh.
    • Ophthalmology Department, Children's University Hospital Temple Street, Dublin, Ireland. Electronic address: mcelneaelizabeth@gmail.com.
    • J AAPOS. 2013 Dec 1; 17 (6): 634-6.

    AbstractDyskeratosis 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.Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. All rights reserved.

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