Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary 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
Aplasia of lacrimal and salivary glands
Chediak-Higashi syndrome
Fish-eye disease
Hereditary glaucoma
Axenfeld-Rieger Anomaly
FOXC1
Modifiers of clinical glaucoma presentation
COL15A1
COL18A1
Nail-patella syndrome
LMX1B
OPA1
Open angle glaucoma 1
Open angle glaucoma 1A
MYOC
Open angle glaucoma 1B
Open angle glaucoma 1C
Open angle glaucoma 1D
Open angle glaucoma 1E
OPTN
Open angle glaucoma 1F
ASB10
Open angle glaucoma 1G
WDR36
Open angle glaucoma 1H
Open angle glaucoma 1I
Open angle glaucoma 1J
Open angle glaucoma 1K
Open angle glaucoma 1L
MYOC
Open angle glaucoma 1M
Open angle glaucoma 1N
Open angle glaucoma 1O
NTF4
Open angle glaucoma 1P
Open angle glaucoma 3
Open angle glaucoma 3A
CYP1B1
Open angle glaucoma 3B
Open angle glaucoma 3C
Open angle glaucoma 3D
LTBP2
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Syndromic microphthalmia 6
Usher syndrome

References:

1.

Wiggs JL et al. (2013) Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.

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2.

None (2015) Glaucoma Genes and Mechanisms.

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3.

Gupta V et al. (2013) Determinants of severity at presentation among young patients with early onset glaucoma.

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4.

Mandal AK et al. (2016) Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome.

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5.

Orphanet article

Orphanet ID 359 [^]
6.

Wikipedia article

Wikipedia EN (Glaucoma) [^]
Update: May 9, 2019