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1.

Age-related macular degeneration

Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but reduced dim light (scotopic) vision often occurs in the early stages of the disease.Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other.The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.
[from GHR]

MedGen UID:
116576
Concept ID:
C0242383
Disease or Syndrome
2.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
3.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina. [from HPO]

MedGen UID:
506135
Concept ID:
CN006909
Finding
4.

Macular degeneration

Degeneration of the macula lutea. [from HPO]

MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
5.

Glycogen storage disease, type II

Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon. [from GeneReviews]

MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
6.

Abnormal degeneration

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
7.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
8.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
9.

Ability to balance

The maintenance of a stable, upright body position. [from NCI]

MedGen UID:
154340
Concept ID:
C0560184
Finding
10.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
11.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
12.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
13.

Risk factor

Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes. [from NCI_NCI-GLOSS]

MedGen UID:
48477
Concept ID:
C0035648
Finding
14.

Retinal degeneration

A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) [from MeSH]

MedGen UID:
48432
Concept ID:
C0035304
Finding; Pathologic Function
15.

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
16.

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
17.

Disorder of eye

Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include. -Refractive errors. -Cataracts - clouded lenses. -Glaucoma - a disorder caused by damage to the optic nerve. -Retinal disorders - problems with the nerve layer at the back of the eye. -Macular degeneration - a disease that destroys sharp, central vision. -Diabetic eye problems. -Conjunctivitis - an infection also known as pinkeye. Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute .  [from MedlinePlus]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
18.

Age-related macular degeneration 11

Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but reduced dim light (scotopic) vision often occurs in the early stages of the disease.Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other.The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.
[from GHR]

MedGen UID:
393833
Concept ID:
C2677774
Disease or Syndrome
19.

CFH-Related Disorders

MedGen UID:
893650
Concept ID:
CN239324
Disease or Syndrome
20.

Functional disorders of polymorphonuclear neutrophils

MedGen UID:
507745
Concept ID:
C0016808
Disease or Syndrome
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