Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.

Autor: von Scheibler ENMM; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., van der Valk Bouman ES; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Nuijts MA; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Bauer NJC; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, The Netherlands., Berendschot TTJM; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, The Netherlands., Vermeltfoort P; Department of Ophthalmology, Máxima Medical Center, Veldhoven, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands., van Eeghen AM; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; ENCORE, Erasmus Medical Center, Rotterdam, The Netherlands.; Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands., Houben ML; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., van Amelsvoort TAMJ; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., Boot E; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.; The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada., van Egmond-Ebbeling MB; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 569-578. Date of Electronic Publication: 2021 Nov 12.
DOI: 10.1002/ajmg.a.62556
Abstrakt: The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neuropsychiatric disorders. We aim to provide an overview of ocular findings in 22q11.2DS in order to optimize recommendations for ophthalmic screening. We combined results from a systematic literature review with results from a multicenter cross-sectional study of patients with 22q11.2DS who were assessed by an ophthalmologist. Our systematic literature search yielded four articles, describing 270 patients. We included 132 patients in our cross-sectional study (median age 8.9 [range 0-56] years). Most reported ocular findings were retinal vascular tortuosity (32%-78%), posterior embryotoxon (22%-50%), eye lid hooding (20%-67%), strabismus (12%-36%), amblyopia (2%-11%), ptosis (4%-6%), and refractive errors, of which hyperopia (6%-48%) and astigmatism (3%-23%) were most common. Visual acuity was (near) normal in most patients (91%-94%). Refractive errors, strabismus, and amblyopia are treatable conditions that are frequently present in patients with 22q11.2DS and should be corrected at an early stage. Therefore, in 22q11.2DS, we recommend ophthalmic and orthoptic screening at the age of 3 years or at diagnosis, and a low-threshold referral in adults.
(© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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