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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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