Foredragsholder / Presenter

Navn / Name: Lisbeth Sandfeld Nielsen, MD, PhD                             

Institution: Rigshospitalet                                                                                          

Afdeling / Department: Øjenklinikken

Medforfattere / Co-authors:

Navn / Name: Lone Wolsing, ortoptist

Institution: Glostrup Hospital

Afdeling / Department: Øjenafdelingen

ABSTRACT

Ophthalmic findings in children with 22q11.2 microdeletion syndrome

Purpose: The 22q11.2-microdeletion syndrome, comprises the Velocardiofacial Syndrome and the DiGeorge Syndrome and is diagnosed in 1 of 4000 live births. It has an autosomal dominant transmission even though most cases are new mutations.

A variable expression of different congenital anomalies is seen; primarily cardiac defects, speech disorders because of velopharyngeal insufficiency, cleft palate, typical facial appearance, thymus hypoplasia or aplasia, immunologic defects and developmental delay of various levels.

Ophthalmic findings have been described only in casuistic reports and small studies, but no larger surveys have been conducted.

The aim of this study is to describe the ophthalmologic findings in a group of 30 consecutively referred patients with verified 22q11.2-deletions.

Methods: The 30 patients had a full ophthalmic and orthoptic examination including refraction in cycloplegia.

Results: We found a high prevalence of refractive errors, predominantly hyperopia; significant hyperopia (≥+3D) was found in 7 patients. Three patients had low vision; the causes were optic hypoplasia, cataracts, and cerebral visual impairment. Embryotoxon posteriores was found in 3, while tortuosity of the retinal vessels was more common (6). Strabismus was found in 6 patients (esotropia: 4, exotropia: 2).

Conclusion: Children with the 22q11.2-deletion syndrome should be ophthalmic examined at time of diagnosis. A relatively large group has significant ophthalmic disorders, which require regular follow up.