Abstract:Background
The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.
Methods
Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was pe… Show more
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