Lkc utas e3000

All patients underwent a complete ophthalmologic examination, including visual acuity (VA) examination, intraocular pressure measurement, slit-lamp biomicroscopy, ophthalmoscope, visual fields assessment (Carl Zeiss Meditec, Inc., Dublin, CA, United States), electroretinography (ERG) and visual evoked potentials (VEP) (LKC UTAS E3000 LKC Technologies, Inc., United States). The OCT (Cirrus OCT 5000, Carl Zeiss Meditec, Inc., Dublin, CA, United States) was performed for each patient to evaluate retinal nerve fiber layer (RNFL) thickness. The MRI was performed in 2 patients and CT scan was completed in the other 2 patients. The audiological, urological, neurological and psychiatric examinations results were recorded from the medical records.

All patients underwent detailed clinical evaluations, including medical history, family history, and basic and auxiliary examinations. The chief complaint, the course of the disease and accompanying symptoms were recorded in detail. In addition, every patient was asked whether his parents were consanguineous and whether other family members were affected. Basic and auxiliary examinations included best corrected visual acuity, tonometry, color vision (Ishihara color plate), slit-lamp examination, dilated fundus examination, frequency domain optical coherence tomography (Cirrus OCT 5000, Carl Zeiss Meditec, Inc., Dublin, CA, United States), Humphrey VisualField Analyzer (Carl Zeiss Meditec, Inc., Dublin, CA, United States), full-field electroretinography (ERG), and visual evoked potential (VEP) (LKC UTAS E3000 LKC Technologies, Inc., United States) tests. A preliminary assessment of systemic conditions was performed by measuring the fasting blood glucose concentration, pure-tone audiometry, and urine specific gravity. Orbital magnetic resonance imaging or computed tomography was used to exclude neoplasms.

Our study involved seven family members from four generation, who underwent detailed history ophthalmic examination, including BCVA testing, color vision (Ishihara color plate), slit lamp biomicroscopy, tonometry (Humphrey VisualField Analyzer, Carl Zeiss, Inc., Dublin, CA, United States), dilated fundus examination, SD-OCT (Spectralis HRA + OCT, Heidelberg, Engineering, Inc., Heidelberg, Germany), OCT angiography (OCTA), visual field tests with RTVue XR Avanti OCT with AngioVue (Optovue, Fremont, CA, United States), fundus autofluorescence (FAF, Spectralis HRA +OCT; Heidelberg, Germany), full-field ERG and multifocal ERG (mfERG, LKC UTAS E3000 LKC Technologies, Inc., United States). We also examined 256 normal control volunteers from China, with a normal phenotype in visual acuity testing and visual field measurement and no other obvious serious diseases. Family and medical history, including subjective degree of vision loss, age of onset and other related clinical manifestations, was obtained. Blood samples were collected from the peripheral blood and stored at 4°C before further analysis.