ArticleDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft2019
[Multimodal diagnostic of CSNB1 with NYX gene mutation].
Article in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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