b******e
发帖数: 432 | 1 先谢谢大家了。
孩子的大致情况是：左眼原始玻璃体增生，英文为PHPV。另外孩子脑瘫（3岁才会走路
，说话也不清楚等等）。
在国内看了医生，好像说也就这样了，治不了了。想问问学医的同学，这种病在美国可
以治么？家长有想带孩子过来治病的想法。
另外还想问一下这种病是否有遗传因素，以及如何在孕前排查。
再次感谢啦。 | n***w
发帖数: 2405 | 2 Persistent Hyperplastic Primary Vitreous (PHPV)
Definition: PHPV is a congenital condition with persistent hyaloid
vasculature and mesenchymal tissue from the embryonic primary vitreous in a
microphthalmic eye. It is often seen in combination with other syndromes.
The syndrome has been renamed recently as persistent fetal vasculature.
Incidence/Prevalence: Rare. About 50 cases were seen in a busy pediatric
referral surgery practice over 10 years (Ref 2).
Etiology: Described by Reese in 1949, PHPV is thought to be congenital. As
the ectoderm of the lens plate and neuroectoderm of the optic vesicle
separate, vasoformative mesenchymal tissue normally grows in to the space.
In PHPV the tissue is thought to persist, hence the name. Recently it was
discovered that mice lacking a tumor suppressor gene (Arf) have an anomaly
similar to human PHPV. (Ref 1) PHPV has been described in association with
neurofibromatosis 2 and Axenfeld-Rieger syndrome with its concomitant
chromosomal abnormality.
References:
Thorton J.D. IOVS 2007
Hunt A. BJO 2005.
since this is a very rare disease, it has not attracted many researches. The
etiology remains unknow. Since it is a congential disease, I am sure it has
genetic component out of that.
Treatment: Lensectomy with or without anterior or total vitrectomy, and
trabeculectomy are generally the procedures that are performed depending on
the clinical presentation. The retinal detachment can be repaired. Attempts
at early surgical rehabilitation prior to 77 days may have a better visual
outcome. (Ref 2) | b******e
发帖数: 432 | |
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