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Glaucoma 1, open angle, A(GLC1A)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Glaucoma hereditary, juvenile; Glaucoma, Dominant (Juvenile Onset); GLC1A; Primary open angle glaucoma juvenile onset 1
Gene (location): MYOC (1q24.3)
Monarch Initiative: MONDO:0007664
OMIM®: 137750


Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.

Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.

In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.

Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.

Structural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma. [from MedlinePlus Genetics]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
MedGen UID:
Concept ID:
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Abnormal iris vasculature
MedGen UID:
Concept ID:

Recent clinical studies


Svidnicki PV, Braghini CA, Costa VP, Schimiti RB, de Vasconcellos JPC, de Melo MB
Ophthalmic Genet 2018 Dec;39(6):717-724. doi: 10.1080/13816810.2018.1546405. PMID: 30484747
Gupta V, Somarajan BI, Walia GK, Kaur J, Kumar S, Gupta S, Chaurasia AK, Gupta D, Kaushik A, Mehta A, Gupta V, Sharma A
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):355-362. Epub 2017 Nov 22 doi: 10.1007/s00417-017-3853-0. PMID: 29168043


Svidnicki PV, Braghini CA, Costa VP, Schimiti RB, de Vasconcellos JPC, de Melo MB
Ophthalmic Genet 2018 Dec;39(6):717-724. doi: 10.1080/13816810.2018.1546405. PMID: 30484747

Clinical prediction guides

Svidnicki PV, Braghini CA, Costa VP, Schimiti RB, de Vasconcellos JPC, de Melo MB
Ophthalmic Genet 2018 Dec;39(6):717-724. doi: 10.1080/13816810.2018.1546405. PMID: 30484747

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