黄斑变性 疾病
Overview
黄斑变性 disease is the most common form of inherited juvenile macular degeneration. 它是由眼睛的黄斑恶化引起的. The condition typically develops during childhood or adolescence, but sometimes does not cause vision problems until later in life. The macula is part of the retina that is responsible for color perception and central vision, 对于阅读这样的细枝末节的任务，哪一个是需要的, 写作, 驾驶和看清其他细节.
The rate at which vision is lost varies for each person. 然而, eventually most people with 黄斑变性 disease have 20/200 to 20/400 vision, which cannot be corrected with prescription eye glasses, 隐形眼镜或屈光手术.
In most cases, 黄斑变性 disease is inherited as an autosomal recessive disorder. People who have one gene for the disease paired with one normal gene are unaffected. 这些人被称为载体. 当两个搬运工有了孩子, each child has a 25 percent chance of inheriting two copies of the 黄斑变性 gene (one from each parent). Children who inherit two copies of the 黄斑变性 gene will have the disease.
我们治疗黄斑变性病的方法
UCSF's ophthalmologists provide comprehensive evaluations and care for all types of eye conditions, 从最普通的到罕见的和复杂的. They are experts in inherited eye diseases, such as 黄斑变性 disease.
Although 黄斑变性 disease currently has no treatments, researchers are working to develop them. Interested patients may be able to receive experimental treatments by joining a clinical trial. 生活方式的改变, such as avoiding excessive light and not taking supplements that contain vitamin A, 可以减缓视力丧失. 低视力艾滋病, mobility training and other supportive care can also help patients with performing everyday tasks.
奖 & 识别
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迹象 & 症状
In the early stages of 黄斑变性 disease, vision may be near normal, which can delay diagnosis. 随着病情的发展, 它会导致中央视力丧失, 对于阅读这样的细枝末节的任务，哪一个是需要的, 写作, 驾驶和看清其他细节.
其他症状包括:
- 感知颜色困难
- 视野中的盲点
- Difficulty adapting to dim or dark spaces such as a darkened room or outside at dusk, 或者暴露在强光下之后
诊断
在很多情况下, your ophthalmologist may be able to detect 黄斑变性 disease by examining your retina and macula. These parts of the eye often develop yellowish flecks that are deposits of a fatty byproduct of normal cell activity, 被称为脂褐质, which accumulates abnormally in people with 黄斑变性 disease.
这个测试叫做 荧光素血管造影 or optical coherence tomography (OCT) may also be recommended to obtain more detailed images of your retina. 除了, it may be necessary to measure how the retina responds to light with electrodiagnostic tests such as an 网膜电图(ERG) 或多焦点ERG.
治疗
At this time there is no treatment available for 黄斑变性 disease. 然而, researchers are studying gene and drug therapies. One promising study involves delivering a healthy version of the gene that causes 黄斑变性 disease, ABCA4, into retinal cells to restore production of the normal protein. Your ophthalmologist may discuss the option of testing your blood for mutations in this gene. Another study aims to replace the cells that live under the retina, 视网膜色素上皮细胞(RPE, 使用干细胞疗法. Other approaches aim to develop drugs that can reduce the buildup of lipofuscin, which is responsible for vision loss in people with 黄斑变性 disease.
Researchers have also found that exposure to excessive amounts of light may cause further retinal damage. 因此, it is essential that people with 黄斑变性 disease wear sunglasses with UV protection and a hat with a wide brim. It is also recommended that patients with 黄斑变性 disease avoid taking supplemental vitamins containing more than the recommended daily allowance of vitamin A, since large amounts of vitamin A may make the disease progress faster.
Visual aids and adaptations around the home and at work, and training from social services can help those with 黄斑变性 disease. It may also be important that people with 黄斑变性 disease visit a genetic counselor who can discuss disease inheritance and help with family planning, career choices and other issues related to living with the condition.
加州大学旧金山分校健康 medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
