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Results: 1 to 20 of 47

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 GHR]

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

Ulcer

The formation of a break on the skin or on the surface of an organ. An ulcer forms when the surface cells die and are cast off. Ulcers may be associated with cancer and other diseases. [from NCI]

MedGen UID:
22541
Concept ID:
C0041582
Pathologic Function
3.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
4.

Glaucoma

MedGen UID:
409541
Concept ID:
C1962986
Finding
5.

Irido-corneo-trabecular dysgenesis

Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.
[from GHR]

MedGen UID:
91031
Concept ID:
C0344559
Congenital Abnormality
6.

N 22 compound

MedGen UID:
51536
Concept ID:
C0129573
Pharmacologic Substance
7.

Corneal opacity

clouding that can occur in the transparent part of the coat of the eyeball or cornea, secondary to inflammation, infection or irritant exposure by a foreign body or chemical. [from CRISP]

MedGen UID:
40485
Concept ID:
C0010038
Finding
8.

Congenital glaucoma

Congenital glaucoma (CG) is a developmental glaucoma that results from abnormal development of the aqueous drainage structure characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, clinically presenting with the characteristic triad of epiphora, photophobia and blepharospasm. [from ORDO]

MedGen UID:
798310
Concept ID:
CN207233
Congenital Abnormality
9.

Opacity

MedGen UID:
689940
Concept ID:
C1265876
Pathologic Function
10.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
11.

Congenital corneal dystrophy

MedGen UID:
506155
Concept ID:
CN007035
Finding
12.

Corneal dystrophy

An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. [from HPO]

MedGen UID:
504738
Concept ID:
CN001063
Finding
13.

Congenital glaucoma

MedGen UID:
504720
Concept ID:
CN001020
Finding
14.

Peters anomaly

A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [from HPO]

MedGen UID:
446371
Concept ID:
CN000620
Finding
15.

Central core disease

Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, but in general, most affected individuals acquire independent ambulation. Life span is usually normal. Severe disease is early in onset with profound hypotonia often accompanied by poor fetal movement, spinal deformities, hip dislocation, joint contractures, poor suck, and respiratory insufficiency requiring assisted ventilation. The outcome ranges from death in infancy to survival beyond age five years. Typically the weakness in CCD is not progressive. [from GeneReviews]

MedGen UID:
199773
Concept ID:
C0751951
Disease or Syndrome
16.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
17.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
18.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
19.

Bilateral

Affecting both sides of the body, or a pair of organs. [from NCI]

MedGen UID:
65977
Concept ID:
C0238767
20.

Glaucoma, congenital

Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haabs striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing (hyperlacrimation). Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated cases, blindness invariably occurs. [from GeneReviews]

MedGen UID:
42532
Concept ID:
C0020302
Disease or Syndrome

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