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L.S. Nielsen, H. Jensen, L. Skov; Ophthalmologic Findings in the 22q11.2del Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):673.
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Purpose: To describe the ophthalmologic findings in a group of 15 patients with 22q11.2–deletion. The micro–deletion syndrome localized on chromosome 22q11 is known to involve many organs. Ophthalmologic abnormalities have been described only in casuistic reports, but no larger surveys have been conducted. Methods: A retrospective study of 15 patients with a confirmed diagnosis of 22q11.2–deletion. The patients had a full ophthalmologic examination and visual acuity and refractive errors were registered. Results: All patients had ophthalmologic abnormalities. One patient was blind because of cerebral visual impairment, and two had low vision, one because of microphthalmia and cataract, and one because of hypoplasia of the optic nerves. One patient had delayed visual maturation. The rest had acceptable visual acuity (VA>/=0.67). All but one were hypermetrope with mean value +4.0D, std. dev. 1.75D, range +0,50D to +6,00D, eight patients had a significant hypermetropi (>/=+3 D) and needed spectacle correction. Four patients had exotropia, two patients had esotropia, and two patients had embryotoxon posterior. Conclusions: The findings show that low vision and sight–threatening eye conditions are common in patients with this chromosomal abnormality (4 of 15 patients). Also the results show that most of the patients with 22q11.2–deletion need examination by an ophthalmologist because of their refractive errors, which have previously been overlooked. It is therefore essential that the paediatric carers are aware of the frequent eye problems found in these patients. A larger study of the eye–findings of this syndrome is being conducted to consolidate the above findings.
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