Congenital Stationary Night Blindness Panel
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چکیده
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel is high (almost 100%) for patients with X-linked CSNB. This panel is included in the Retinal Dystrophy Panel.
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Congenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملIdentification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2 family which show a key recombinant assigning the CSNB2 gene proximal to MAOB.
متن کاملUndetectable S cone electroretinogram b-wave in complete congenital stationary night blindness.
AIMS The short wavelength sensitive (S) cone electroretinograms (ERGs) were examined in two patients with the complete type of congenital stationary night blindness (CSNB). METHODS Ganzfeld spectral flashes in the presence of strong white adapting fields were used to elicit the S cone ERGs. RESULTS The S cone ERG b-wave was not detectable to short wavelength stimuli, while the mixed long (L...
متن کاملMutations in NYX of individuals with high myopia, but without night blindness
PURPOSE High myopia is a common genetic variant that severely affects vision. Genes responsible for myopia without linked additional functional defects have not been identified. Mutations in the nyctalopin gene (NYX) located at Xp11.4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1. This study was desig...
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