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Items: 8

1.

Fish-eye disease

Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. [from GHR]

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
2.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
3.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
4.

Corneal dystrophy, Fuchs endothelial, 3

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from OMIM]

MedGen UID:
442479
Concept ID:
C2750451
Disease or Syndrome
5.

Corneal dystrophy, Fuchs endothelial, 7

Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread. These guttae contribute to the loss of cells in the cornea, leading to vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties. [from GHR]

MedGen UID:
413849
Concept ID:
C2750447
Disease or Syndrome
6.

Corneal dystrophy, Fuchs endothelial, 5

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 (136800). [from OMIM]

MedGen UID:
413308
Concept ID:
C2750449
Disease or Syndrome
7.

Granular corneal dystrophy

The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. [from HPO]

MedGen UID:
42290
Concept ID:
C0018179
Disease or Syndrome
8.

Reis-Bucklers corneal dystrophy

MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
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