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Items: 11

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.

Anterior synechiae of the anterior chamber

Adhesions between the iris and the cornea. [from HPO]

MedGen UID:
507128
Concept ID:
CN167211
Disease or Syndrome
3.

Anterior synechiae

Adhesions between the iris and the cornea. [from HPO]

MedGen UID:
488783
Concept ID:
C0152252
Disease or Syndrome
4.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
5.

Glaucoma

MedGen UID:
409541
Concept ID:
C1962986
Finding
6.

Anterior segment dysgenesis

MedGen UID:
383825
Concept ID:
C1856042
Finding
7.

Aplasia of the retina

A developmental defect characterized by absence of the retina. [from HPO]

MedGen UID:
869292
Concept ID:
C4023718
Finding
8.

Aplasia of the retina

A developmental defect characterized by absence of the retina. [from HPO]

MedGen UID:
426763
Concept ID:
CN009554
Finding
9.

Anterior segment of eye aplasia

MedGen UID:
377856
Concept ID:
C1853234
Finding
10.

Hypoplasia of the retina

MedGen UID:
344343
Concept ID:
C1854685
Finding
11.

Foveal hypoplasia and anterior segment dysgenesis

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (136520). [from OMIM]

MedGen UID:
324554
Concept ID:
C1836603
Disease or Syndrome
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