Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P, Bok LA, van Eeghen AM, Houben ML, van Amelsvoort TAMJ, Boot E, van Egmond-Ebbeling MB.
von Scheibler ENMM, et al.
Am J Med Genet A. 2022 Feb;188(2):569-578. doi: 10.1002/ajmg.a.62556. Epub 2021 Nov 12.
Am J Med Genet A. 2022.
PMID: 34773366
Free PMC article.
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 reported ocular findings were retinal vascular tortuosity (32%-78%), posterior embryotoxon (22%-50%), eye lid hooding (20%-67%), strabi …