Section 11-C: The genetics of specific types of glaucoma

Several forms of glaucoma have been investigated in search of disease causing genes. In the last 10 years, genes associated with juvenile open angle glaucoma, primary open angle glaucoma, primary congenital glaucoma, and many forms of secondary glaucoma have been identified (Table 11-2). The genes associated with juvenile open angle glaucoma, normal tension glaucoma, and primary congenital glaucoma are reviewed below.

Gene	Chromosomal location	Type of Glaucoma
Myocilin (MYOC)	Chromosome 1q24.3-q25.2	JOAG or POAG
Optineurin (OPTN)	Chromosome 10p15-p14	NTG
Cytochrome P450 1B1 (CYP1B1)	Chromosome 2p22-p21	PCG
Paired homeodomain transcription factor 2 (PITX2)	Chromosome 4q25-q26	Glaucoma associated with ARS
Forkhead Box C1 (FOXC1)	Chromosome 6p25	Glaucoma associated with ASD and ARS
Paired box 6 (PAX6)	Chromosome 11p13	Glaucoma associated with aniridia

Table 11-2 Known glaucoma-causing genes. Several genes have been associated with various forms of glaucoma including juvenile open angle glaucoma (JOAG), primary open angle glaucoma (POAG), primary congenital glaucoma (PCG), Axenfeld-Rieger’s syndrome (ARS), anterior segment dysgenesis syndrome (ASD), and aniridia.

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Section 11-C(1). Juvenile Open Angle Glaucoma

Section 11-C(2). Primary Open Angle Glaucoma

Section 11-C(3). Normal Tension Glaucoma

Section 11-C(4). Primary Congenital Glaucoma

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