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Introduction Yes – glaucoma often runs in families, but the story is far more complex than a single “glaucoma gene.” Having a first-degree relative (parent, sibling, or child) with glaucoma raises your own risk dramatically – by roughly 4 to 9 times compared with the general population (). In other words, family history is a very strong warning flag. However, most cases of glaucoma are not caused by one single inherited mutation. Instead, glaucoma is usually a polygenic, multifactorial disease – meaning that dozens or even hundreds of common genetic variants each add a little to risk, and environmental factors (age, blood pressure, steroid use, etc.) also play key roles. In this article we unpack the genetics: identifying the handful of rare genes that can cause glaucoma on their own, and explaining the vast network of other genes that subtly raise risk. We also explore how genetic risk varies among ethnic groups, what exciting new genetic tests and treatments are on the horizon, and what patients should do today with family history or genetic test results in hand.Monogenic Glaucoma – When One Gene Drives the Disease A few glaucoma genes follow classic “Mendelian” inheritance (like sickle cell or cystic fibrosis), especially in early‐onset cases. These are relatively rare but have very high impact. We highlight the major ones: MYOC (myocilin). This was the first glaucoma gene discovered. Mutations in MYOC cause juvenile and adult primary open-angle glaucoma (POAG). In juvenile-onset glaucoma (ages ~3–40), MYOC mutations appear in roughly 10% of patients () (up to ~30–36% in some early studies). In adult POAG (onset after age 40), MYOC mutations account for about 3–5% of cases (). These mutations act in a dominant way; if you have one bad copy of MYOC you have high lifetime risk of glaucoma (). For example, a common MYOC mutation called p.Gln368Ter is found almost exclusively in people of European descent and by itself gives a very high risk – population studies show that carriers of this variant have about a 7-fold higher odds of POAG than non-carriers () (). (Not everyone with the mutation gets glaucoma, illustrating that other factors matter too.) OPTN (optineurin) and TBK1 (TANK-binding kinase 1). These two genes are linked to normal‐tension glaucoma (NTG), a form of open-angle glaucoma that occurs even when eye pressure is not elevated. In rare families with aggressive NTG, mutations in OPTN or duplications of TBK1 have been found (). These mutations also act in a dominant fashion. Because OPTN and TBK1 are involved in cellular stress and death pathways, their discovery showed that neurodegenerative mechanisms (not just high pressure) can drive glaucoma (). CYP1B1. This gene (encoding a cytochrome P450 enzyme) is the major cause of primary congenital glaucoma (PCG) – glaucoma that appears at birth or in infancy. Mutations in CYP1B1 are autosomal recessive, meaning a child must inherit two bad copies (one from each parent) to develop the disease. Worldwide, CYP1B1 mutations are by far the most common cause of PCG, especially in populations with high family marriage rates (). (In one large review, over 70 different CYP1B1 mutations were identified in PCG patients from many countries ().) Because this is a well-established cause, any child with true congenital glaucoma is usually offered genetic

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