家族性渗出性玻璃体视网膜病变
Familial exudative vitreoretinopathy.
作者信息
Benson W E
出版信息
Trans Am Ophthalmol Soc. 1995;93:473-521.
PURPOSE
To evaluate the natural history of Familial Exudative Vitreoretinopathy (FEVR) with emphasis on the effect of the age of onset on its severity and on the development of late complications such as cataract and retinal detachment. Also, to evaluate affected patients for DNA abnormalities.
METHODS
The records of thirty-nine patients with FEVR were studied. All were asked to come in for a final follow-up examination. The referring physician was asked to provide the latest findings for those who could not. On 10 patients, karyotypes were prepared.
RESULTS
Only 2 of 28 patients whose onset of symptoms was prior to their third birthday had a final visual acuity of 20/200 or better. Older patients had a better prognosis, because they were more likely to have asymmetrical retinal deterioration with only one eye deteriorating. Preservation of good visual acuity into the teens and later was no guarantee that deterioration would not occur. In 3 eyes of 4 patients who were asymptomatic until 15 years of age, the final visual acuity was counting fingers or worse. In 5 patients, retinal detachment developed 6 to 17 years after apparent stabilization. The karyotype of 10 patients showed no evidence for rearrangement, altered size, translocations or deletions of chromosome 11 or any other chromosome. Of the 31 eyes in patients older than 15 years, 10 (32%) had a significant cataract. Three eyes underwent cataract surgery.
CONCLUSIONS
The prognosis for infants with FEVR is extremely poor and the long-term prognosis for patients with a later onset of the condition is guarded. Retinal detachment, macular dragging, and cataract are common late complications which can develop even in patients whose eye findings appear to be stable. Karyotype studies ruled out involvement of chromosome 11 or others at a gross level, but did not exclude them at the location for some genetic defect related to FEVR because single base changes and small deletions or insertions may be undetectable by the methods utilized.
目的
评估家族性渗出性玻璃体视网膜病变（FEVR）的自然病史，重点关注发病年龄对其严重程度以及白内障和视网膜脱离等晚期并发症发生发展的影响。此外，对受累患者进行DNA异常评估。
方法
研究了39例FEVR患者的病历。所有患者均被要求前来进行最终随访检查。对于无法前来的患者，要求转诊医生提供最新检查结果。为10例患者制备了核型。
结果
在28例症状在3岁前出现的患者中，只有2例最终视力达到20/200或更好。年龄较大的患者预后较好，因为他们更有可能出现不对称性视网膜病变，仅一只眼睛病变。青少年及以后保持良好视力并不能保证不会出现视力恶化。在4例15岁前无症状的患者中，有3只眼最终视力为指数或更差。5例患者在病情明显稳定6至17年后发生了视网膜脱离。10例患者的核型显示没有证据表明11号染色体或任何其他染色体发生重排、大小改变、易位或缺失。在15岁以上患者的31只眼中，10只（32%）患有明显的白内障。3只眼接受了白内障手术。
结论
FEVR婴儿的预后极差，发病较晚的患者长期预后也不乐观。视网膜脱离、黄斑牵拉和白内障是常见的晚期并发症，即使在眼部表现看似稳定的患者中也可能发生。核型研究在总体水平上排除了11号染色体或其他染色体的受累，但由于所用方法可能无法检测到单碱基变化以及小的缺失或插入，因此不能排除它们在与FEVR相关的某些基因缺陷位置的可能性。
Zotero 插件