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Items: 18

1.

Glaucoma

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.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 may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.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. [from GTR]

MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
2.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
3.

Open angle

MedGen UID:
607386
Concept ID:
C0429524
Finding
4.

Primary open angle glaucoma

A type of glaucoma with optic nerve damage in an eye with evidence of significant obstruction of the functional trabecular meshwork by the peripheral iris would be classified as having primary angle closure. [from HPO]

MedGen UID:
506665
Concept ID:
CN167834
Finding
5.

Glaucoma

MedGen UID:
409541
Concept ID:
C1962986
Finding
6.

Primary open angle glaucoma

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 Glaucoma Other forms of primary open angle glaucoma include GLC1A (137750), caused by mutation in the MYOC gene (601652) on chromosome 1q24.3-q25.2; GLC1B (606689) on chromosome 2cen-q13; GLC1C (601682) on chromosome 3q21-q24; GLC1D (602429) on chromosome 8q23; GLC1F (603383), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (609887), caused by mutation in the WDR36 gene (609669) on chromosome 5q22; GLC1H (611276) on chromosome 2p16-p15; GLC1I (609745) on chromosome 15q11-q13; GLC1J (608695) on chromosome 9q22; GLC1K (608696) on chromosome 20p12; GLC1L (see 137750) on chromosome 3p22-p21; GLC1M (610535) on chromosome 5q22; GLC1N (611274) on chromosome 15q22-q24; GLC1O (613100), caused by mutation in the NTF4 gene (162662) on chromosome 19q13.3; GLC1P (177700), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (604834). Nail-patella syndrome (NPS; 161200), which is caused by mutation in the LMX1B gene (602575) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of Glaucoma For a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (231300). See 606657 for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG. [from GTR]

MedGen UID:
87389
Concept ID:
C0339573
Disease or Syndrome
7.

Glaucoma, Open-Angle

Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. [from NCI]

MedGen UID:
6611
Concept ID:
C0017612
Disease or Syndrome
8.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
9.

Visual loss

Disturbance of eyesight. [from NCI]

MedGen UID:
784038
Concept ID:
C3665386
Finding
10.

Glaucoma 1, open angle, D

MedGen UID:
355468
Concept ID:
C1865427
Disease or Syndrome
11.

Glaucoma 1, open angle, I

MedGen UID:
341861
Concept ID:
C1857852
Disease or Syndrome
12.

Ocular hypertension

A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma. [from MeSH]

MedGen UID:
10423
Concept ID:
C0028840
Disease or Syndrome
13.

Glaucoma suspect

MedGen UID:
9027
Concept ID:
C0017614
Disease or Syndrome
14.

Eye disease

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
15.

Glaucoma 1, open angle, H

MedGen UID:
409919
Concept ID:
C1969811
Disease or Syndrome
16.

Glaucoma 1, open angle, N

MedGen UID:
370756
Concept ID:
C1969812
Disease or Syndrome
17.

Primary open angle glaucoma juvenile onset 1

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.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 may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.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. [from GTR]

MedGen UID:
333974
Concept ID:
C1842028
Disease or Syndrome
18.

Loss of Chromosome 8

A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. [from NCI]

MedGen UID:
309330
Concept ID:
C1517991
Cell or Molecular Dysfunction
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