Page 159 - Demo

Ocular findings in 22q11.2DS1575Table 1. Literature review of ocular findings in patients with 22q11.2DS.Author and year Study designCountryPatient number Age (y)aAge range (y)Retinal tortuosity (%)Posterior embryotoxon (%)Optic disk abnormalities (%)Strabismus (%)Amblyopia (%)Ptosis (%)Eye lid hooding (%)Hyperopia (%)Myopia (<2D, %)Astigmatism (≥2.0D, %)Midbari Kufert et al., 2016Retrospective cohortIsrael 128 12.9 (11)1-55 4 NR NR 12 2 NR NR 2b 18 b 2 bForbes et al., 2007 Prospective cohortU.S.A. 90 9 3wk37 34 49 1 18 4 4 20 (>2D) 28 4 12Casteels et al., 2008 Prospective cohortBelgium 36 7 3-14 78 41 0 36 6 NR 67 (≥2D)4810 6Gokturk et al., 2016 Prospective cohortTurkey 16 M:7 4m-37 56 50 6 25 NR 6 50 (>2D) 63 3Prevalence 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.