Weitwinkelglaukom 3A
Das Weitwinkelglaukom 3A ist eine autosomal rezessive Erkrankung, die durch Mutationen im CYP1B1-Gen ausgelöst wird.
Gliederung
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Referenzen:
1. |
Stoilov I et al. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. [^] |
2. |
Bejjani BA et al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. [^] |
3. |
Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. [^] |
4. |
Bejjani BA et al. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. [^] |
5. |
Belmouden A et al. (2002) A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. [^] |
6. |
Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. [^] |
7. |
Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. [^] |
8. |
Azmanov DN et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. [^] |
9. |
Pasutto F et al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma. [^] |
10. |
Gencíkova A et al. (1982) Congenital glaucoma in Gypsies from Slovakia. [^] |
11. |
Ferák V et al. (1982) Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. [^] |
12. |
Demenais F et al. (1981) Segregation analysis of congenital glaucoma: approach by two differential models. [^] |
13. |
Gencík A et al. (1980) Genetic heterogeneity of congenital glaucoma. [^] |
14. |
Sarfarazi M et al. (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. [^] |
15. |
Plásilová M et al. () Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. [^] |
16. |
Law SK et al. (2001) Serial axial length measurements in congenital glaucoma. [^] |
17. |
GRAHAM MV et al. (1958) Bilateral congenital buphthalmos in two sisters. [^] |
18. |
HANNA BL et al. (1962) Recessive buphthalmos in the rabbit. [^] |
19. |
BEIGUELMAN B et al. (1963) RECESSIVE JUVENILE GLAUCOMA. [^] |
20. |
Kaur K et al. (2005) Myocilin gene implicated in primary congenital glaucoma. [^] |
21. |
Chakrabarti S et al. (2006) Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. [^] |
22. |
Dimasi DP et al. (2007) Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. [^] |
23. |
Pasutto F et al. (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. [^] |
24. |
López-Garrido MP et al. (2009) Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. [^] |
25. |
None (1950) [Familial occurrence and hereditary aspects of presenile & senile glaucoma]. [^] |
26. |
Davidson AE et al. (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. [^] |
27. |
Gong B et al. (2015) Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma. [^] |
28. |
Demenais F et al. (1979) Congenital glaucoma: genetic models. [^] |
29. |
Bonaïti C et al. (1978) Consanguinity in multifactorial inheritance. Application to data on congenital glaucoma. [^] |
30. |
None (1983) Further analysis of familial transmission of congenital glaucoma. [^] |
31. |
None (1982) Heterogeneity in nonsyndromal congenital glaucoma. [^] |
32. |
OMIM.ORG article Omim 231300 [^] |