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: | X-linked recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | NYX localized to Xp11.4-p11.3 |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-11 |
| 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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