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Items: 16

1.

Stargardt disease 1

Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.
[from GHR]

MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
2.

Stargardt disease

An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. [from NCI]

MedGen UID:
75734
Concept ID:
C0271093
Disease or Syndrome; Finding
3.

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
4.

Macular degeneration

Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. . AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute.  [from MedlinePlus]

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

Macular dystrophy

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [from HPO]

MedGen UID:
506116
Concept ID:
CN006801
Finding
6.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
7.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
8.

Macular degeneration

MedGen UID:
336506
Concept ID:
C1849131
Finding
9.

Macular dystrophy

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [from HPO]

MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
10.

Retinal dystrophy

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. [from MeSH]

MedGen UID:
208903
Concept ID:
C0854723
Disease or Syndrome; Finding
11.

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
12.

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
13.

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
14.

Stargardt Disease, Recessive

MedGen UID:
893603
Concept ID:
CN239312
Disease or Syndrome
15.

Age-related macular degeneration 13

Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see 603075. [from OMIM]

MedGen UID:
815853
Concept ID:
C3809523
Disease or Syndrome
16.

Macular degeneration, early-onset

MedGen UID:
808251
Concept ID:
CN221671
Disease or Syndrome
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