Hlavatá L, Ďuďáková Ľ, Trková M, Soldátová I, Skalická P, Kousal B, Lišková P
Cesk Slov Oftalmol. 2016 Fall;72(5):167-171.
Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out.
The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders.
PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified).
In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases.Key words: preimplantation genetic diagnosis; monogenic eye diseases; in vitro fertilization.
植入前基因诊断（PGD）是体外受精背景下基因检测的一种既定应用。PGD是产前诊断的一种替代方法，其目的是通过仅植入不携带特定疾病遗传易感性的胚胎来防止遗传性疾病传给后代。本研究的目的是概述已进行PGD的眼部疾病。
欧洲文献检索聚焦于遗传性眼部疾病PGD的最佳实践、伦理问题、风险和结果。
针对多种眼部疾病进行了PGD；然而，其应用的一个先决条件是了解致病突变。该方法的主要优点是夫妇无需面临是否堕胎的决定。在进行PGD之前必须提供专业咨询，以便完全了解任何受孕儿童的残疾风险、疾病表现的后果以及该方法的优缺点。在非综合征性眼病和以眼部表现为主的疾病组中，欧洲国家已针对无虹膜、脉络膜视网膜萎缩、眼外肌先天性纤维化、莱伯先天性黑蒙、眼部白化病、视网膜色素变性、X连锁视网膜劈裂症、斯塔加特病、睑裂狭小-上睑下垂-内眦赘皮综合征和视网膜母细胞瘤进行了PGD。针对X连锁或线粒体疾病进行性别鉴定的疾病有蓝锥单色视、脉络膜视网膜萎缩、家族性渗出性玻璃体视网膜病变、莱伯遗传性视神经病变、黄斑营养不良（未进一步明确）、诺里病、X连锁先天性静止性夜盲、X连锁视网膜劈裂症和眼球震颤（未进一步明确）。
近年来，使用PGD的潜力有所增加。该方法适用的疾病范围已扩大到包括严重的遗传性眼病。关键词：植入前基因诊断；单基因眼病；体外受精
