Glaucoma, Primary Open Angle; Poag

Description

Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

Clinical Features

Phenotypes and symptoms related to Glaucoma, Primary Open Angle; Poag

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Optic atrophy
  • Blindness
  • Visual loss
  • Glaucoma
  • High myopia
  • Optic neuropathy
  • Open angle glaucoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Glaucoma, Primary Open Angle; Poag Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Primary Open Angle Glaucoma (Adult onset).

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

OPTN, WDR36, MYOC
Specificity
34 %
Genes
100 %
OPTN Gene Sequencing.

By GeneDx (United States).

OPTN
Specificity
100 %
Genes
100 %

You can get up to 52 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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