Page 156 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
 Retinal vascular tortuosity  Posterior embryotoxon Abnormal curvature of the retinal blood vessels
Corneal abnormality with a thickened and anteriorly
displaces Schwalbe’s line
 Distichiasis  Against-the-rule astigmatism Eyelashes that arise from an abnormal part of the eye lid
Occurs when the horizontal meridian of the cornea is
steeper than the vertical meridian
 With-the-rule astigmatism Occurs when the vertical meridian of the cornea is steeper
than the horizontal meridian
 Dacryostenosis Tear duct obstruction
 Dacryocystorhinostomy Surgical intervention to restore tear flow
 Keratoconus Cone shaped cornea caused by thinning of the cornea
 Peters’ anomaly Corneal opacity due to anterior segment dysgenesis
Box 1. Ocular concepts and definitions.
Results
Systematic review of the literature
Study selection
The flow diagram in Figure 1 shows the study selection process. We
identified 1213 records through a literature search in PubMed, Embase
and the Cochrane Library. After deduplicating we screened 871 titles and
abstracts for relevance, resulting in 180 articles of which full-text was
screened for eligibility. One article was added after manual search of the
reference sections.13 Four studies, including a total of 270 patients, were
included for data-extraction in this systematic review. Four studies were
excluded because of a high risk of bias (Supplementary 3).13-16
Study characteristics
Table 1 shows the study characteristics of the included studies, all published
between 2007 and 2016. Three were prospective cohort studies,7-9 and one
was a retrospective cohort study.17 Median number of included patients
was 63 (range 16-128).
In three studies ophthalmic assessment was done by an ophthalmologist,7-9
and in one study by a subspecialized pediatrician.17 In this study, additional
data were collected through a medical and developmental checklist that was
completed by the patient’s parents.17 Two studies reported only on children,7,
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