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פאנלים
Congenital stationary night blindness
GC_81
Last update: 07.01.2026
Congenital stationary night blindness (CSNB) is an inherited retinal disorder characterized by impaired night vision with relatively stable visual function over time. Patients may also have myopia, nystagmus, strabismus, and characteristic electroretinographic abnormalities.
This panel includes genes associated with the major forms of complete and incomplete congenital stationary night blindness, as well as related non-progressive retinal disorders. Representative genes include CACNA1F, NYX, TRPM1, GRM6, GPR179, LRIT3, GNAT1, PDE6B, RHO, and SAG.
This panel is recommended for patients with congenital or childhood-onset night blindness and characteristic ERG findings when a non-progressive retinal disorder is suspected rather than an inherited retinal degeneration.
CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
ClinVar P/LP variants (IDs) not covered: GUCY2D: [217300]



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Beilinson Hospital
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