Page 158 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
Refractive errors were frequently reported in all included studies (Table
1). Hyperopia was the most common refractive error, with a prevalence
ranging from 6% to 48% for moderate to severe hyperopia. Moderate to
severe myopia (3-10%) and high astigmatism (3-12%) were less frequent.
One study showed an increase in high astigmatism with age.8
Ocular findings that were most frequently reported were retinal vascular
tortuosity (4-78%), posterior embryotoxon (41-50%), strabismus (12-36%),
amblyopia (2-6%) and optic disc abnormalities (0-6%) (Table 1). Optic disk
abnormalities consisted of hypoplastic or small optic discs (6%), and tilted
optic discs (1%). Other ophthalmic findings that were reported were ptosis
(4-6%), distichiasis (2-6%),8, 9 lens opacities (3-6%),7, 9 glaucoma (6%),9
cataract (3%),7 iriscoloboma (3%),7 Peters’ anomaly (3%)7 and keratoconus
(1%).17
Dutch multicenter study
Results
In our cross-sectional study, 132 patients (60 males, [45%]) were included.
Median age at last ophthalmic screening was 8.9 (range 0-56) years, with
23% aged 18 years or older. Twenty-two patients (17%) were referred to
the ophthalmologist for: suspected visual impairment (n=9), suspected
reduced color vision (n=1), persistent conjunctivitis (n=1), recurrent eye
lid infection (n=2), entropion (n=1), vitreous floaters (n=1), suspected
papilledema (n=1), suspected eye movement disorder (n=1), suspected
amblyopia (n=1), strabismus (n=2) and two patients for a second opinion
because of esotropia (n=1) and amblyopia (n=1). Five patients received
ophthalmic screening because of another underlying condition (juvenile
idiopathic arthritis (n=4), diabetes mellitus (n=1)). VA was available for 109
patients (83%) and was normal in the majority (N=101, [93%]). Of the 23
patients who had no quantitative VA measurement, nine patients (39%)
showed good fixation during ophthalmic screening. Reasons for a mild
visual impairment (N=5, [5%]) were bilateral or unilateral amblyopia, mild
cataract and high myopia. Three of these five patients (60%) were adults.
Moderate visual impairment was found in two children (2%) with only
dacryostenosis in one and mild hypoplastic optic disks in the other patient.
Both patients were reported to have difficulties with performing the test.
156