Page 161 - Demo

Ocular findings in 22q11.2DS1595strabismus (N=16, [12%]), amblyopia (N=15, [11%]) of which 20% were refractive amblyopia, and optic disk abnormalities (N=15, [13%]) such as hyperpigmentation, hypoplastic, small or tilted optic disks and excavations. Nine patients (7%) had a history of eye surgery, which included strabismus correction (N=3, [2%]), dacryocystorhinostomy (N=3, [2%]), eye lid correction (N=2, [2%]) and entropion correction (N=1, [1%]). All surgeries, except for one eye lid correction, have taken place in childhood. Prevalence rates of ocular findings in patients younger than 18 years at time of examination were in general slightly lower compared to prevalence rates in all patients. However, it should be noted that some of the ocular findings in adults, especially those that typically manifest in childhood such as amblyopia or embryotoxon posterior, are likely to have been present at an earlier age. Less frequent ocular findings were nystagmus (N =2, [2%]), uveitis (N=1, [1%]), cataract (N=1, [1%]), iris remnants (N=1, [1%]), bilateral corneal ectasia (N=1, [1%]) and one patient with keratoconus, subcapsular cataract and tapetoretinal degeneration. There was no association between retinal vascular tortuosity and the presence of a congenital heart defect (Chi2=2.19, p=0.33). There were no differences in ocular abnormalities between males and females, except for posterior embryotoxon which was significantly more prevalent in women (18/60, [30%]) compared to men (5/46, [11%]) (Chi2 = 5.61, p=0.02). Table 3. Ocular findings in 132 patients with 22q11.2DS.Ocular findings Number of patients% of patients <18y [95% CI] a% of total[95% CI] bRetinal vascular tortuosity c 38/120 24 [19-39] 32 [23-40]Posterior embryotoxon c 23/106 15 [11-30] 22 [14-30]Strabismus 16/132 10 [5-18] 12 [6-18]Eye surgery 9/132 6 [2-13] 7 [2-11]Optic disk abnormalities c 15/120 9 [5-18] 13 [7-19]Amblyopia 15/132 6 [2-13] 11 [6-17]Epicanthus 11/132 4 [1-10] 8 [4-13]Ptosis 6/132 3 [1-8] 5 [1-8]Motility disorder 3/132 0 [0-4] 2 [0-5]Dacryostenosis 3/132 3 [1-8] 2 [0-5]Glasses prescribed 58/132 35 [26-45] 44 [35-53]a Proportion of patients <18 years at time of examination (n=101). b Proportion of the total sample (n=132).c For 12 patients no fundoscopy and for 26 patients no slit lamp examination data was available.Abbreviation: CI= confidence interval, y=years.