Purpose: To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene.
Methods: Fundoscopic photography, ultrasonography, fluorescein angiography, optical coherence tomography (OCT). Mutational analysis of the CHD7 gene in lymphocyte DNA.
Results: Large pale optic discs with a fibrous elevation and colobomata and arterio-venous anastomoses with enlarged veins in optic discs were detected. OCT revealed numerous flat cystic spaces. The genetic study revealed the R2319C mutation in the CHD7 gene.
Conclusions: The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses.