Abstract

SO.13.08

The CHARGE Association

Arnulf Schnaidt, Zisis Gatzioufas, Ursula Löw, Barbara Käsmann-Kellner, Berthold Seitz
Klinik für Augenheilkunde, Universitätskliniken des Saarlandes, Homburg/Saar

Objective
Diagnosis of syndroms represents great challenge in neuro- and paediatric ophthalmology. Our aim was to report on different manifestations of the CHARGE association treated in our department.
Methods
The CHARGE association is caused by a genetic defect (microdeletion CHD7-gen, chromosome 8q12; mainly spontaneously; incidence 0.1-1.2 per 10.000). “CHARGE” is a acronym of the most frequent symptoms (C=coloboma of the iris/retina; H=heart defects; A=choanal atresia; R=growth deficiency; G=genital abnormalities; E=malformation of the outer ear).
Results
In our department 15 patients with CHARGE association were treated (7 boys, 8 girls). The mean age was 6.5 years (the youngest patient is 2 years, the oldest 16 years old). 8 patients had a coloboma of the retina, which was accompanied by a coloboma of the iris in 3 patients. There were many other extraocular malformations such as choanal atresia (5); labyrinthine hearing loss (6); severe heart defects (9), 4 of them underwent surgical intervention; cleft lip and palate (1); esophageal atresia (5); tracheoesophageal fistula (2); facial palsy (3); palsy of the 10th cranial nerve (1); mental retardation in 7 patients.
Conclusions
Children which refer to an ophthalmologist with a coloboma of the iris or the retina, a positive facialis sign and a characteristic face (CHARGE ear) should be recognised as suspects of a CHARGE association. A close collaboration with other disciplines is very important for the differential diagnosis, especially because of the senso-motoric deficiencies.

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