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Chapter 5164general population. Second, the cross-sectional study with a retrospective study design made it possible that clinicians have not specifically assessed or reported on all variables for patients who visited the outpatient clinic. Also, age of onset of ocular findings was often lacking from medical files or unknown, making it difficult to report prevalence rates of adult-onset ocular findings. Taking into account that some patients had difficulties with performing the full examination due to non- cooperativity or not understanding instructions, prevalence rates may have been underestimated. Third, there is a risk of selection bias since most participants in our cross-sectional study and studies included in this review were assessed in tertiary 22q11.2 centers. However, most participants are referred to these tertiary centers for congenital heart defects, speech and language disorders (including velopharyngeal insufficiency), and / or developmental, psychological or psychiatric problems. Therefore, we do not expect overestimated ophthalmologic prevalence rates.ConclusionRefractive errors, strabismus and amblyopia are common, clinically relevant and treatable ocular findings in patients with 22q11.2DS. Clinicians should be aware of these manifestations and the beneficial result of detection and correction at an early age. Therefore, we would recommend standardized ophthalmic and orthoptic screening in children with 22q11.2DS at the age of three years or at diagnosis, and a low-threshold for referral in adults.FundingThis work was supported financially by the foundation of scientific research of ‘s Heeren Loo (#2210100, Stichting Wetenschappelijk Onderzoek).Conflict of interestsThe authors declare no conflict of interest. Data availability statementThe data that support our findings are available from the corresponding author on reasonable request.