Page 159 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

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Table 1. Literature review of ocular findings in patients with 22q11.2DS.
Author and year Study design
Country
Patient number
Age (y)a
Age range (y)
Retinal tortuosity
(%)
embryotoxon (%)
Posterior
Optic disk
abnormalities (%)
Strabismus (%)
Amblyopia (%)
Ptosis (%)
Hyperopia (%)
Myopia (<2D, %)
Astigmatism
(≥2.0D, %)
Retrospective
cohort
4 12
(%)
Eye lid hooding
Israel 128 12.9
1-55 4 NR NR 12 2 NR NR 2b 18 b 2 b
(11)
U.S.A. 90 9 3wk-
34 49 1 18 4 4 20 (>2D)
37
Belgium 36 7 3-14 78 41 0 36 6 NR 67 (≥2D)
Turkey 16 M:7 4m-37 56 50 6 25 NR 6 50 (>2D)
28
48
6
Prevalence rates were based on the total number of patients except for the prevalence of refractive errors which was based on the number of eyes examined.
Abbreviations: y=year, m=months, wk= weeks, M=median, D=diopters, NR=not reported, CD=cannot determine because cylinder error was reported for 2
cases only (both >1D and less than 2D), U.S.A.= United states of America. a Ages are reported as mean (SD), unless indicated otherwise. b Cut-off values for
refractive errors were not defined.
Midbari Kufert et
al., 2016
Forbes et al., 2007 Prospective
cohort
Casteels et al.,
2008
Gokturk et al., 2016 Prospective
cohort
Prospective
cohort
10 6
3 3
5
Ocular findings in 22q11.2DS