Page 165 - Demo

Ocular findings in 22q11.2DS1635For young adults with 22q11.2DS we recommend low-threshold referral for ophthalmic and orthoptic screening because of a high prevalence of hyperopia and astigmatism. Clues for visual impairment may be headaches, fatigue, behavioral problems or functional deterioration. We have no reasons to believe that clinically relevant ocular findings in adults with 22q11.2DS and an intellectual disability are much different from what has been reported for adults with intellectual disabilities in general. Consequently, we have no reasons to deviate from the general guidelines for ophthalmic screening in patients with intellectual disabilities recommending regular screening in late-adulthood.48, 49 Recommendations for monitoring are provided in Table 4.Finally, we would recommend ophthalmological consultation and subsequent testing for a suspected second genetic hit in case of a second, possibly genetic, diagnosis such as tapetoretinal degeneration or congenital cataract. Large prospective studies with standardized ophthalmological examination and long-term follow-up in children and adults are necessary to evaluate the frequency of ocular findings and to study associations between ocular findings and age in 22q11.2DS. Future studies may consider measuring the axial length of the eyeball, corneal shape and accommodation in order to better understand the high prevalence of hyperopia and delay in emmetropization in children with 22q11.2DS. Also, more research is needed on sensory disorders in general because of their importance for speech-language and communication development and in the context of psychiatric co-morbidities in 22q11.2DS. These studies will be of value for informing guidelines, especially for adults with 22q11.2DS, which will be updated next year.Strengths of our cross-sectional study include the relatively large 22q11.2DS sample and systematic examination by a small number of ophthalmologists. There are also some limitations. First, it is important to note that findings may be difficult to compare between studies due to different definitions, measurement techniques, age and ethnic and racial groups. Prevalence rates of some variables such as posterior embryotoxon and vascular tortuosity may differ to a certain extent because of subjective assessment. Nevertheless, our results and previous findings all indicate that these ocular findings are more prevalent in 22q11.2DS compared to the