Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Juvenile onset glaucoma

Hereditary glaucoma is a heterogenous group of diseases with elevated intraocular pressure. It occurs with open angle. Juvenile and late onset forms can be distinguished.

Test Strategy

If glaucoma is congenital or hereditary, molecular diagnostic could be considered.

Pathogenesis

As this group is heterogenous different pathogenetic mechanisms can be separated. Different types of inheritance are possible as well.

Systematic

Hereditary ocular disease and visual impairment
Fish-eye disease
Juvenile onset glaucoma
CYP1B1
LMX1B
MYOC
Open angle glaucoma 1E
Open angle glaucoma 1F
Papillorenal syndrome

References:

1.

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

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2.

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

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