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  • Title: New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.
    Author: Holak HM, Kohlhase J, Holak SA, Holak NH.
    Journal: Ophthalmic Genet; 2008 Jun; 29(2):79-84. PubMed ID: 18484313.
    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.
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