Gene: [0Xp11/CSNB1] congenital stationary night blindness 1 (with myopia); myopia with stationary hemeralopia;
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CAG |
Four forms of congenital stationary night blindness are described: CSNB1 - X-linked (this locus); CSNB2 - X-linked (GEM:0Xp211/CSNB2); CSNB3 - autosomal dominant due to muation in the beta subunit of retinal rod cGMP phosphodiesterase (GEM:04p163/PDE6B); CSNB4 - autosomal dominant, rhodopsin-related (GEM:03q2/RHO)." |
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REF |
LOC,LIN,FOG "Aldred MA &: Genomics, 14, 99-104, 1992 LOC,LIN,FOG "Aldred MA &: CCG, 58, (HGM11), 2054, 1991 LOC,LIN,FOG "Bech-Hansen NT, Pearce WG: AJHG, 52, 71-77, 1993 LOC,LIN,FOG "Bech-Hansen NT &: CCG, 58, (HGM11), 2056, 1991 LOC,LIN,FOG "Bech-Hansen NT &: Hum Genet, 84, 406-408, 1990 LOC,LIN,FOG "Bech-Hansen NT &: CCG, 51, (HGM10), 959, 1989 LOC,LIN,FOG "Bergen AA &: J Med Genet, 31, 580-582, 1994 LOC,LIN,FOG "Berger W &: Hum Genet, 95, 67-70, 1995 LOC,LIN,FOG "Dry KL &: Clin Genet, 43, 250-254, 1993 LOC,LIN,FOG "Gal A &: CCG, 51, (HGM10), 1001, 1989a LOC,LIN,FOG "Gal A &: Hum Genet, 81, 315-318, 1989b LOC,LIN,FOG "Jensen H &: J Med Genet, 32, 348-351, 1995 LOC,LIN,FOG "Li Y &: CCG, 58, (HGM11), 2075, 1991 LOC,LIN,FOG "Musarella MA &: CCG, 51, (HGM10), 1049-1050, 1989 |
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KEY |
eye |
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CLA |
unknown, basic |
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LOC |
0X p11.4-11.23 |
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MIM |
MIM: 310500 |
