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Ophthalmic Genet. 2008 Jun;29(2):79-84. doi: 10.1080/13816810801918391.

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Author information

1
Augenklinik Salzgitter, Salzgitter, Germany.

Abstract

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.

PMID:
18484313
DOI:
10.1080/13816810801918391
[Indexed for MEDLINE]

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