New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.
OBJECTIVE
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.
Holak
Heinrich M
HM
Augenklinik Salzgitter, Salzgitter, Germany.
Kohlhase
Jurgen
J
Holak
Sophie A
SA
Holak
Nikolai H
NH
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics*; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009898:Optic Disk / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D041623:Tomography, Optical Coherence
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human