Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Weitwinkelglaukom 3

Das hereditäre Weitwinkelglaukom 3 ist eine Gruppe von rezessiven 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 3
Weitwinkelglaukom 3A
CYP1B1
Weitwinkelglaukom 3B
Weitwinkelglaukom 3C
Weitwinkelglaukom 3D
LTBP2

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.

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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.

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3.

Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

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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.

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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.

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6.

Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

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7.

Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

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8.

Azmanov DN et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

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9.

Narooie-Nejad M et al. (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

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10.

Ali M et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.

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11.

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

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12.

Firasat S et al. (2008) Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

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13.

Gencíkova A et al. (1982) Congenital glaucoma in Gypsies from Slovakia.

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14.

Ferák V et al. (1982) Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect.

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15.

Demenais F et al. (1981) Segregation analysis of congenital glaucoma: approach by two differential models.

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16.

Gencík A et al. (1980) Genetic heterogeneity of congenital glaucoma.

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17.

Sarfarazi M et al. (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.

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18.

Plásilová M et al. () Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.

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19.

Law SK et al. (2001) Serial axial length measurements in congenital glaucoma.

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20.

GRAHAM MV et al. (1958) Bilateral congenital buphthalmos in two sisters.

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21.

HANNA BL et al. (1962) Recessive buphthalmos in the rabbit.

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22.

BEIGUELMAN B et al. (1963) RECESSIVE JUVENILE GLAUCOMA.

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23.

Kaur K et al. (2005) Myocilin gene implicated in primary congenital glaucoma.

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24.

Chakrabarti S et al. (2006) Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

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25.

Dimasi DP et al. (2007) Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

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26.

Pasutto F et al. (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

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27.

López-Garrido MP et al. (2009) Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

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28.

None (1950) [Familial occurrence and hereditary aspects of presenile & senile glaucoma].

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29.

Davidson AE et al. (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

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30.

Gong B et al. (2015) Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

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31.

OMIM.ORG article

Omim 600975 [^]
Update: 9. Mai 2019