Albinism是“人，动物或植物中的任何色素沉着或着色，导致白发，羽毛，鳞片和皮肤和粉红色的眼睛，哺乳动物，鸟类，爬行动物，两栖动物和鱼类和其他小无脊椎动物也是如此。”Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify.
For ages, Judith had a feeling that she would struggle to become pregnant. There wasn’t a medical explanation for this – it was simply a niggling fear.
她和她的丈夫努力相信，在没有她怀孕的情况下，多年后，他们会成为父母。“I found myself getting anxious and desperate,” Judith first wrote on Love What Matters.
The couple could hardly contain their joy when that second round of IVF proved successful.
朱迪思着携带双胞胎 - 一个男孩，kamis和一个女孩，kachi。
“Finally, at 37 weeks, I had to be induced immediately because I was told that Kachi had stopped growing..” After the birth Nurses let Judith hold her女儿在她被打扫到尼古尔之前简要介绍。
“The first time I saw her, I wondered if the nurse was handing me my baby, or someone else’s,” Judith said. “I waited a few seconds for someone to tell me there was a mix-up?” “Soon the joy of seeing them both healthy surpassed any other feeling at that instant.”
Several days later Judith and her husband were told that their baby girl had albinism.
“我担心她的未来，怎么样societywould treat her, how she’ll be accepted.
Unfortunately, medical professionals were quick to affirm Judith’s worst fears and told her that Kachi would struggle to see and would likely need to learn to read braille.
“She’s so smart and has a strong personality. She knows what she wants and will always go for it.
“I always tell her how beautiful she is, because she really is.
“It’s my responsibility to educate her and teach her to love herself no matter what.
People with albinism have a reduced amount of melanin, or no melanin at all. This can affect their colouring and their eyesight.
Very pale skin that burns easily in the sun and doesn’t usually tan is also typical of albinism.
Someone with albinism can have pale blue, grey or brown eyes. Eye colour depends on the type of albinism and the amount of melanin. People from ethnic groups with darker pigmentation tend to have darker coloured eyes.
The reduced amount of melanin can also cause other eye problems. This is because melanin is involved in the development of the retina, the thin layer of cells at the back of the eye.
- 视力差- 任一short-sightednessor龙视线, and low vision (sight loss that can’t be corrected)
- astigmatism- 角膜（眼睛前面的透明层）的位置不是完美的弯曲或镜片是异常的形状，导致视力模糊
- photophobia- 眼睛对光线敏感
- nystagmus,眼睛不自觉地从一边移动到ide, causing reduced vision; you don’t see the world as “wobbling” because your brain adapts to your eye movement
- squint– where the eyes point in different directions
Some young children with albinism may appear clumsy because problems with their eyesight can make it difficult for them to perform certain movements, such as picking up an object. This should improve as they get older.
The two main types of albinism are:
- oculocutaneous albinism (OCA)– the most common type, affecting the skin, hair and eyes
- ocular albinism (OA)– a rarer type that mainly affects the eyes
Autosomal recessive inheritance
In most cases, including all types of OCA and some types of OA, albinism is passed on in an autosomal recessive inheritance pattern. This means a child has to inherit two copies of the faulty gene (one from each parent) to have the condition.
A genetic counsellor provides information, support and advice about genetic conditions. For example, you can discuss with them how you inherited albinism and the chances of passing it on.
Albinism is usually obvious from a baby’s appearance when they’re born. Your baby’s hair, skin and eyes may be examined to look for signs of missing pigment.
Electrodiagnostic testing is also sometimes used to help diagnose albinism. This is where small electrodes are stuck to the scalp to test the connections of the eyes to the part of the brain that controls vision.推荐0recommendations 出版于