Congenital Stationary Night Blindness (CSNB): An Inherited Retinal Disorder Where Clear Correlations Can Be Made
2021
Congenital stationary night blindness (CSNB) refers to a group of clinically and genetically heterogeneous retinal disorders. Few of those are associated with fundus abnormalities while the majority show largely normal fundi. Clear genotype-phenotype correlations can be performed for patients with the Riggs-form of CSNB, fundus albipunctatus, Oguchi disease, and the Schubert-Bornschein-form of CSNB. In total 15 different genes were associated with those showing more than 500 different mutations in more than 400 cases. While mutations in genes important for the rod phototransduction lead to the Riggs-form of CSNB, fundus albipunctatus, Oguchi disease, mutations in genes important for the downstream signaling from the photoreceptors to the adjacent bipolar cells lead to the Schubert-Bornschein-form of CSNB. In this book chapter, phenotypic characteristics of the different forms of CSNB are summarized for an accurate diagnosis. Clear genotype-phenotype correlations mentioned herein should lead to an improvement of genetic testing.
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