Night blindness, congenital stationary, type 2A
| Disorder | |
|---|---|
| OMIM #: | #300071 (Click to access OMIM database) |
| Disorder: | Night blindness, congenital stationary, type 2A |
| Also known as: | CSNB2A CSNB, INCOMPLETE, X-LINKED type 2 (incomplete) X-linked congenital stationary night blindness |
| Clinical | |
| Phenotype: | impaired night vision, decreased visual acuity, myopia, nystagmus, strabismus |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked |
| Mutations | |
| 1 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | CACNA1F |
| Base Change: | c.3166dupC |
| Amino Acid Change: | p.L1056Pfs |
| 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 Genet 52(1): 71-77. PubMed ID: 8434607 |
| Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. (1998) Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet Aug;103(2):124-30. PubMed ID: 9760193 |
| Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. (1998) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 19(3):264-7. PubMed ID: 9662400 |
| Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. (2001) A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet Feb;108(2):91-7. PubMed ID: 11281458 |
| Boycott KM, Pearce WG, Bech-Hansen NT. (2000) Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol Jun;35(4):204-13. PubMed ID: 10900517 |
| Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, and Bech-Hansen NT. (1998) Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet 62(4): 865-875. PubMed ID: 9529339 |
| Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet Jul;19(3):260-3. PubMed ID: 9662399 |
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