rod and cone function in patients with kcnv2 retinopathy视杆细胞和视锥函数kcnv2患者视网膜病变.pdfVIP

Rod and Cone Function in Patients with KCNV2 Retinopathy 1 2 2 1 ¨ 1,3 Ditta Zobor *, Susanne Kohl , Bernd Wissinger , Eberhart Zrenner , Herbert Jagle ¨ ¨ 1 Institute for Ophthalmic Research, University of Tubingen, Tubingen, Germany, 2 Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of ¨ ¨ Tubingen, Tubingen, Germany, 3 Department of Ophthalmology, University of Regensburg, Regensburg, Germany Abstract Background: To investigate rod and cone function and disease mechanisms in patients with KCNV2 retinopathy. Methodology/Principal Findings: Psychophysical examinations as well as detailed electrophysiological examinations with Ganzfeld and multifocal electroretinogram (ERG) were performed to study response dynamics. Additionally, fundus photography, autofluorescence imaging and spectral domain OCTs were carried out for morphological characterization. Molecular genetic analysis revealed compound heterozygosity in five patients and homozygosity for the KCNV2 gene in one patient. The mutations resulted in complete absence of Kv8.2 subunits in three patients (no protein group, NOP), while the other three patients expressed mutant Kv8.2 subunits resulting in altered Kv2.1/Kv8.2 heteromeric or residual Kv2.1 homomeric potassium channel function (altered protein group, ALP). Although more advanced morphological changes were visible in the NOP group, a clear functional difference between the two groups could not be observed. All patients showed characteristic dynamics of the b-wave intensity-response function, however, scotopic b-wave response ampli