Article
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Scientific reports - 4 Nov 2016
Reiff Charlotte, Owczarek-Lipska Marta, Spital Georg, Röger Carsten, Hinz Hebke, Jüschke Christoph, Thiele Holger, Altmüller Janine, Nürnberg Peter, Da Costa Romain, Neidhardt John
Abstract excerpt
The diagnoses of retinitis pigmentosa (RP) and stationary night blindness (CSNB) are two distinct clinical entities belonging to a group of clinically and genetically heterogeneous retinal diseases. The current study focused on the identification of causative mutations in the RP-affected index patient and in several members of the same family that reported a phenotype resembling CSNB. Ophthalmological...
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