National Cheng Kung University Hospital, Department of Obstetrics and Gynecology, Tainan, Taiwan, ROC.
National Cheng Kung University Hospital, Department of Radiology, Tainan, Taiwan, ROC.
Taiwan J Obstet Gynecol. 2022 Jan;61(1):180-185. doi: 10.1016/j.tjog.2021.11.032.
Anophthalmia is an extreme form on the spectrum of anophthalmia-microphthalmia (A/M) syndrome. Most articles define fetal microphthalmia by an ocular diameter (OD) less than fifth percentile. Diagnosis of fetal microphthalmia using only orbital measurements such as interocular distance (IOD), and OD may neglect the presence or morphology of the fetal lens, hence failing to identify abnormalities of the fetal globe.
We hereby present a case of isolated fetal anophthalmia in two consecutive pregnancies from the same mother. Both fetuses presented as full-sized globes with absence or small size of lens under fetal ultrasound examination. Magnetic resonance imaging and pathology of the second fetus further revealed a thorough view of the underdeveloped globes. Whole exon sequencing (WES) analysis for the parents-fetus trio revealed compound heterozygous mutations of the retinoids acid gene 6 (STRA6).
Detailed examination for intraocular structures including fetal lens, in addition to orbital measurements by ultrasound is crucial for diagnosis of diseases in the A/M spectrum.
无眼症是无眼-小眼球（A/M）综合征谱上的一种极端形式。大多数文章将眼直径（OD）小于第 5 百分位数的胎儿定义为小眼球。仅使用眼距（IOD）和 OD 等眼眶测量值来诊断胎儿小眼球，可能会忽略胎儿晶状体的存在或形态，从而无法识别胎儿眼球的异常。
我们在此介绍了一例来自同一母亲的连续两次妊娠的孤立性胎儿无眼症。两名胎儿在胎儿超声检查下均表现为全尺寸球体，晶状体缺失或体积小。第二胎儿的磁共振成像和病理学进一步揭示了发育不全的球体全貌。对父母-胎儿三进行全外显子测序（WES）分析显示视黄酸基因 6（STRA6）的复合杂合突变。
详细检查包括胎儿晶状体在内的眼内结构，以及超声检查的眼眶测量值，对于 A/M 谱疾病的诊断至关重要。
