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小儿视网膜疾病

Young visually impaired boy in a colorful ball pit

高兹病

Coats’ Disease is a rare abnormality of the blood vessels in the retina. It is typically diagnosed in the first decade of life and almost always not hereditary. Infrequently, Coats’ disease is diagnosed as late as the eighth decade of life…

Coats' Disease
Young girl with glasses sitting on a swing and sticking her tongue out

家族性渗出性玻璃体视网膜病变(FEVR)

In the autosomal dominant form several people in a family are affected and family members are often aware that there is condition causing visual impairment in the family. The other two inheritance patterns can skip generations…
家族性渗出性玻璃体视网膜病变(FEVR)
A young boy with red glasses listening to a wooden xylophone

诺里病

Norrie Disease (ND) is a rare hereditary condition that is inherited in an X-linked recessive pattern – seen almost exclusively in males. From the retina perspective, it has some similarities to familial exudative vitreoretinopathy (FEVR). In general, the retina is less well developed in ND than in FEVR…
诺里病
Young boy with glasses and a blue eye patch on one side smiles and gives a thumbs up

胎儿血管持续综合征(PFVS)

通常,PFVS 发生在一只眼睛上,这只眼睛比另一只眼睛小一些,瞳孔反射发白,睫状体延长。这一系列结果并不能告诉检查者是否存在视网膜发育不良...
胎儿血管持续综合征(PFVS)
Visually impaired teenage girl sitting on the floor and hugging a black and white dog

早产儿视网膜病变(ROP)

当新血管开始从视网膜向眼球中心生长时,就会在眼球后部有血管的视网膜和眼球前部没有血管的视网膜之间形成一条脊...
早产儿视网膜病变(ROP)
Teenage boy sitting at a table and looking at the camera

Congenital X‑Linked Retinoschisis

一种早发的遗传性视网膜疾病,其特征是视网膜层分裂(裂孔),尤其是在视觉中心(眼窝)和/或周边视网膜...
Congenital X‑Linked Retinoschisis
Smiling young girl with brown curly hair holding a stuffed bunny toy

斯蒂克勒综合征

斯蒂克勒综合症是由编码胶原蛋白的基因发生变化(突变)引起的,是遗传性和儿童视网膜脱离的最常见原因。胶原蛋白为组织提供强度和结构...
斯蒂克勒综合征

PRRF 教育视频系列

早产儿视网膜病变的惊人进展

迈克尔-特雷斯(Michael Trese)博士分享了早产儿视网膜病变(ROP)的惊人进展。

履行 PRRF 使命的重要性

迈克尔-特雷斯博士(Dr. Michael Trese)分享了追求 PRRF 的使命为何对儿童、家庭和未来患者的未来如此重要。

视网膜疾病的原因

小儿视网膜研究实验室主任 Ken Mitton 博士讨论如何确定视网膜疾病的病因。

寻找 DNA 变异体

小儿视网膜研究实验室技术员温迪-戴利(Wendy Dailey)解释了如何在患者体内发现 DNA 变异。

什么是孤儿病?

Kimberly Drenser 博士分享了为什么这些疾病被称为 "孤儿病",以及制药公司和美国食品及药物管理局是如何看待这些疾病的。

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