Disorders

Congenital Stationary Night Blindness, Autosomal Dominant 2

Synonym(s): Autosomal Dominant Congenital Stationary Night Blindness, Rambusch Type, CSNBAD2, PDE6B-Related Autosomal Dominant Congenital Stationary Night Blindness

OMIM

Gene	Locus	Protein
PDE6B	4p16.3	Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.