Page 163 - Demo

Ocular findings in 22q11.2DS1615astigmatism was most common in all age groups in our cohort and can be influenced by a reduction in lid pressure,25 which may have contributed to the disturbed emmetropisation in our cohort. Eye lid hooding and ptosis were reported in a substantial number of patients with 22q11.2DS (20-67% and 4-6% respectively). Myopia was less frequently reported in children with 22q11.2DS compared to the general population, but a similar prevalence was found for adults.22 Correction of refractive errors in patients with 22q11.2DS at an early stage is important because it can improve reading abilities.29 Also, high refractive errors and anisometropia have been associated with amblyopia.30, 31 Strabismus and amblyopia were frequently reported in 22q11.2DS and may have direct clinical consequences. The prevalence of strabismus and amblyopia is higher compared to the general population (12-36% versus 1-3% and 2-11% versus 1-4% respectively),32-34but comparable to what has been reported in children with intellectual disabilities (14% for strabismus).23 This may suggest that these results are not specific for a 22q11.2 deletion. Clinicians treating patients with 22q11.2DS should be aware of the increased prevalence of refractive errors, strabismus and amblyopia and their influence on VA and language and communication development if not treated correctly.35-37 Management of amblyopia includes correction of refractive errors or occlusion therapy and intervention preferably takes place as young as possible because of reduced plasticity of the visual cortex after the age of seven years.38 The management of strabismus also depends upon the etiology and includes surgical and non-surgical strategies. The most common ocular finding, though without clinical consequences, in both the systematic review studies and our cross-sectional study, was retinal vascular tortuosity (32-78%). There was one study that reported a prevalence of 4% but did not provide additional information regarding measurement method or an explanation for this very low prevalence compared to other 22q11.2DS studies.17 Retinal vascular tortuosity has a prevalence of 6% in the general population and therefore may be considered as a typical finding in patients with 22q11.2DS.39 Importantly, retinal vascular tortuosity has been associated with other disorders including obstructive sleep apnea,40diabetes mellitus41 and schizophrenia42 in non-22q11.2DS populations. These disorders are also frequently reported in patients with 22q11.2DS.4, 43-45 In accordance with previous studies in 22q11.2DS, we did not find a correlation between retinal vascular tortuosity and cardiac anomalies.7, 9