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Items: 19

1.

Familial exudative vitreoretinopathy

MedGen UID:
573220
Concept ID:
C0339539
Congenital Abnormality
2.

Neovascularization

A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions. [from MeSH]

MedGen UID:
45041
Concept ID:
C0027686
Pathologic Function
3.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
4.

Retinal vascular proliferation

Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina. [from MeSH]

MedGen UID:
20550
Concept ID:
C0035320
Pathologic Function
5.

Retinal neovascularization

MedGen UID:
910829
Concept ID:
CN241402
Finding
6.

Exudative vitreoretinopathy

MedGen UID:
850901
Concept ID:
CN231521
Finding
7.

Peripheral retinal neovascularization

A type of retinal neovascularization that affects the periphery of the retina. [from HPO]

MedGen UID:
633873
Concept ID:
C0474355
Disease or Syndrome
8.

Vitreoretinopathy

MedGen UID:
340468
Concept ID:
C1850109
Disease or Syndrome; Finding
9.

Exudative retinopathy

NDP-related retinopathies are characterized by a spectrum of fibrous and vascular changes of the retina at birth that progress through childhood or adolescence to cause varying degrees of visual impairment. The most severe phenotype is described as Norrie disease (ND), characterized by greyish yellow fibrovascular masses (pseudogliomas) secondary to retinal vascular dysgenesis and detachment. Congenital blindness is almost always present. Approximately 30%-50% of males with ND have developmental delay/intellectual disability, behavioral abnormalities, or psychotic-like features. The majority of males with ND develop sensorineural hearing loss. Less severe phenotypes include: persistent hyperplastic primary vitreous (PHPV), characterized by a fibrotic white stalk from the optic disk to the lens; X-linked familial exudative vitreoretinopathy (XL-FEVR), characterized by peripheral retinal vascular anomalies with or without fibrotic changes and retinal detachment; retinopathy of prematurity (ROP); and Coats disease, an exudative proliferative vasculopathy. Phenotypes can vary within families. [from GeneReviews]

MedGen UID:
102319
Concept ID:
C0154832
Congenital Abnormality; Disease or Syndrome
10.

Telangiectasia

a visibly dilated blood vessel on the skin [from CHV]

MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
11.

Retinopathy

The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are. -Macular degeneration - a disease that destroys your sharp, central vision. -Diabetic eye disease. -Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye. -Retinoblastoma - cancer of the retina. It is most common in young children. -Macular pucker - scar tissue on the macula. -Macular hole - a small break in the macula that usually happens to people over 60. -Floaters - cobwebs or specks in your field of vision. NIH: National Eye Institute.  [from MedlinePlus]

MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
12.

Abnormality of the choroid

Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea. [from MeSH]

MedGen UID:
3427
Concept ID:
C0008521
Disease or Syndrome
13.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
14.

Telangiectasia

Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. [from HPO]

MedGen UID:
215068
Concept ID:
C1138421
Anatomical Abnormality; Finding
15.

Exudative vitreoretinopathy 3

Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is characterized by failure of peripheral retinal vascularization. The visual problems and variable phenotype associated with adFEVR result from secondary complications caused by retinal ischemia. The retinal avascularity is probably present from birth and generates sequelae that stabilize in early adult life or progress in later life. Expressivity may be asymmetric and is highly variable, ranging from mild or asymptomatic to severe (e.g., registered as blind) within the same family. [from GeneReviews]

MedGen UID:
344184
Concept ID:
C1854002
Disease or Syndrome
16.

Rubeosis iridis

MedGen UID:
910823
Concept ID:
CN241340
Finding
17.

Choroidal neovascularization of the macula

Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. [from HPO]

MedGen UID:
868912
Concept ID:
C4023323
Pathologic Function
18.

Exudative vitreoretinopathy 6

MedGen UID:
850938
Concept ID:
CN231687
Disease or Syndrome
19.

Abnormality of the macula

An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. [from HPO]

MedGen UID:
488928
Concept ID:
C0730362
Disease or Syndrome
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