Rating, P. and Stoehr, H. and Neuhaus, C. and Schaperdoth-Gerlings, B. and Boehm, M. R. R. and Freimuth, M. -A. and Bechrakis, N. E. (2019) Multimodal diagnostic of CSNB1 with NYX gene mutation. OPHTHALMOLOGE, 116 (12). pp. 1207-1211. ISSN 0941-293X, 1433-0423
Full text not available from this repository. (Request a copy)Abstract
This article presents the case of a young male patient with complete congenital stationary night blindness (CSNB1). The informative value of the general medical history and clinical findings for the diagnosis was impaired due to language barriers and low compliance. Full-field electroretinography and optical coherence tomography help to define particular hereditary retinal dystrophies. Molecular genetic analysis by next generation sequencing as a part of multimodal diagnostics finally uncovered a rare, causal missense mutation in the nyctalopin (NYX) gene.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | STATIONARY NIGHT BLINDNESS; CSNB1; NYX gene mutation; Multimodal diagnostic; Full-field electroretinography; OCT |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 20 Mar 2020 11:08 |
| Last Modified: | 20 Mar 2020 11:08 |
| URI: | https://pred.uni-regensburg.de/id/eprint/25712 |
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