Amish, Mennonite, and Hutterite
Genetic Disorder Database

Night blindness, congenital stationary, type 1

Disorder
OMIM #: #310500  (Click to access OMIM database)
Disorder: Night blindness, congenital stationary, type 1 
Also known as: CSNB1A
hemeralopia
nyctalopia
Complete CSNB 
Clinical
Phenotype: Nonprogressive, myopia, nystagmus, poor visual acuity, disturbed or absent night vision, hemeralopia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: NYX localized to Xp11.4-p11.3
Base Change:
Amino Acid Change:
Last updated: 2007-07-12 

References
Bech-Hansen NT, and Pearce WG. (1993) Manifestations of X-linked Congenital Stationary Night Blindness in Three Daughters of an Affected Male: Demonstration of Homozygosity. Am. J. Hum. Gent. 52: 71-77.
PubMed ID: 8434607 
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RSL, Bech-Hansen NT. (1998) Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am. J. Hum. Genet. 62:865-875.
PubMed ID: 9529339 

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