Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Weitwinkelglaukom 1

Das familiäre Weitwinkelglaukom 1 ist eine Gruppe von dominanten Glaukomerkrankungen deren Ätiologie nicht immer vollständig geklärt werden konnte.

Gliederung

Hereditäres Glaucom
Axenfeld-Rieger Anomalie
Modifikatoren der Glaukomausprägung
Nagel-Patella-Syndrom
OPA1
Weitwinkelglaukom 1
Weitwinkelglaukom 1A
MYOC
Weitwinkelglaukom 1B
Weitwinkelglaukom 1C
Weitwinkelglaukom 1D
Weitwinkelglaukom 1E
OPTN
Weitwinkelglaukom 1F
ASB10
Weitwinkelglaukom 1G
WDR36
Weitwinkelglaukom 1H
Weitwinkelglaukom 1I
Weitwinkelglaukom 1J
Weitwinkelglaukom 1K
Weitwinkelglaukom 1L
MYOC
Weitwinkelglaukom 1M
Weitwinkelglaukom 1N
Weitwinkelglaukom 1O
NTF4
Weitwinkelglaukom 1P
Weitwinkelglaukom 3

Referenzen:

1.

Kitsos G et al. (2001) Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

external link
2.

Wiggs JL et al. (2004) A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

external link
3.

Gould DB et al. (2004) Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.

external link
4.

Zillig M et al. (2005) Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice.

external link
5.

Baird PN et al. (2005) Evidence for a novel glaucoma locus at chromosome 3p21-22.

external link
6.

Gould DB et al. (2006) Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.

external link
7.

Hewitt AW et al. (2007) The optic nerve head in myocilin glaucoma.

external link
8.

Shepard AR et al. (2007) Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

external link
9.

Wirtz MK et al. (2007) Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

external link
10.

Bhattacharjee A et al. (2007) Myocilin variants in Indian patients with open-angle glaucoma.

external link
11.

Kwon YH et al. (2009) Primary open-angle glaucoma.

external link
12.

Stoilova D et al. (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region.

external link
13.

Trifan OC et al. (1998) A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.

external link
14.

Avramopoulos D et al. (1996) Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

external link
15.

Wirtz MK et al. (1997) Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

external link
16.

Sripriya S et al. (2004) Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

external link
17.

Samples JR et al. (2004) Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.

external link
18.

Frezzotti P et al. (2011) Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

external link
19.

Suriyapperuma SP et al. (2007) A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.

external link
20.

Allingham RR et al. (2005) Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

external link
21.

Wang DY et al. (2004) Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma.

external link
22.

Pang CP et al. (2006) A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.

external link
23.

Fan BJ et al. (2007) Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene.

external link
24.

Wang DY et al. (2006) A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.

external link
25.

Bennett SR et al. (1989) An autosomal dominant form of low-tension glaucoma.

external link
26.

None (1961) Pseudoglaucoma of autosomal, dominant inheritance. A report on three families.

external link
27.

Fingert JH et al. (2011) Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

external link
28.

Kawase K et al. (2012) Confirmation of TBK1 duplication in normal tension glaucoma.

external link
29.

Fingert JH et al. (2014) TBK1 and flanking genes in human retina.

external link
30.

Awadalla MS et al. (2015) Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

external link
31.

Wiggs JL et al. (1996) The distinction between juvenile and adult-onset primary open-angle glaucoma.

external link
32.

Liu Y et al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.

external link
33.

Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

external link
34.

Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

external link
35.

Monemi S et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

external link
36.

Fingert JH et al. (2007) No association between variations in the WDR36 gene and primary open-angle glaucoma.

external link
37.

Pasutto F et al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma.

external link
38.

Wiggs JL et al. (2000) Genome-wide scan for adult onset primary open angle glaucoma.

external link
39.

Lotufo D et al. (1989) Juvenile glaucoma, race, and refraction.

external link
40.

Graff C et al. (1995) Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

external link
41.

Morissette J et al. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.

external link
42.

Wiggs JL et al. (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.

external link
43.

Richards JE et al. (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

external link
44.

Johnson AT et al. (1993) Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.

external link
45.

Sheffield VC et al. (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

external link
46.

Pasutto F et al. (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

external link
47.

Johnson AT et al. (1996) Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

external link
48.

Richards JE et al. (1996) Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

external link
49.

None (1996) Number of people with glaucoma worldwide.

external link
50.

Stone EM et al. (1997) Identification of a gene that causes primary open angle glaucoma.

external link
51.

Wiggs JL et al. (1995) Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31.

external link
52.

Belmouden A et al. (1997) Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25.

external link
53.

Brézin AP et al. (1997) Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

external link
54.

None (1998) The search for glaucoma genes--implications for pathogenesis and disease detection.

external link
55.

Yoon SJ et al. (1999) Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.

external link
56.

Craig JE et al. (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

external link
57.

Wiggs JL et al. (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

external link
58.

CROMBIE AL et al. (1964) HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY.

external link
59.

None (1965) THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA.

external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz