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ENNight Blindness, Congenital Stationary, Type 1h (CSNB1H)
Alias:
Congenital Stationary Night Blindness 1h
Csnb1h
Congenital Stationary Night Blindness Type 1h
Night Blindness, Congenital Stationary, 1h
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Night Blindness, Congenital Stationary, Type 1h, also known as congenital stationary night blindness 1h, is related to progressive familial heart block, type ib and vitreoretinal degeneration, snowflake type. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Related phenotypes are nyctalopia and photophobia
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