<abstract xmlns="http://www.w3.org/1999/xhtml"><p> We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night blindness (CSNB). CSNB is inherited in an autosomal dominant manner in the case of mutations in the GNAT1, PDE6B and RHO genes, in an autosomal recessive manner in the case of mutations in the CABP4, GNB3, GPR179, GRM6, LRIT3, SAG, SLC24A1, TRPM1 and genes and in an X-linked recessive manner in the case of mutations in the CACNA1F and NYX genes. The overall prevalence of CSNB is not known. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual evoked potentials and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.</p></abstract>

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night blindness (CSNB). CSNB is inherited in an autosomal dominant manner in the case of mutations in the GNAT1, PDE6B and RHO genes, in an autosomal recessive manner in the case of mutations in the CABP4, GNB3, GPR179, GRM6, LRIT3, SAG, SLC24A1, TRPM1 and genes and in an X-linked recessive manner in the case of mutations in the CACNA1F and NYX genes. The overall prevalence of CSNB is not known. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual evoked potentials and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

Genetic testing for congenital stationary night blindness

The EuroBiotech Journal

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{"article-title":"Genetic testing for congenital stationary night blindness"}

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night...

Genetic testing for congenital stationary night blindness

Published Online: Oct 27, 2017

Page range: 38 - 40

DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S1.12

© 2018

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.