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Published on: August 8, 2022
New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene
Heinrich M Holak1, Jurgen Kohlhase, Sophie A Holak
1Augenklinik Salzgitter, Salzgitter, Germany.
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.
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