目的:常染色体显性遗传性中央凹发育不全(FVH1)是一种与PAX6基因突变相关的罕见疾病。作为一个孤立的疾病实体,FVH1不包括眼部疾病,如无虹膜,小眼症,白化病,和色盲.然而,它仅包括孤立的中央凹发育不全和中央凹发育不全伴老年性白内障。本报告的目的是介绍我们在来自两个FVH1家庭的四名患者中的发现,这些患者没有可见的眼科黄斑异常。
方法:回顾两个FVH1家族的医疗记录和PAX6基因突变的遗传确认。
方法:眼底照片,光学相干层析成像(OCT)和OCT血管造影(OCTA)图像,并确定了裂隙灯眼前节的发现。确定PAX6基因的突变类型。
结果:一名3岁女孩(患者1)有视力发育受损的体征和症状,没有其他视网膜异常OU。OCT图像显示一个浅的中央凹窝,OCTA显示中央凹无血管区的缺失。第二名患者(患者2)是一名6岁的女孩,患有单侧轻度白内障和浅中央凹OU。在她无症状的母亲(患者3)和外祖父(患者4)中发现了类似的浅中央凹凹陷。尽管虹膜和后眼底正常,所有FVH1患者均有性腺发育.PAX6基因的遗传检测显示,患者1具有新的杂合突变(p。Asn365Lys)作为从头突变,患者2、3和4具有新的杂合突变(p。Pro20Ser)。
结论:PAX6基因杂合突变可导致FVH1出现接近正常的黄斑。FVH1很难诊断,但是对中央凹结构和脉管系统的详细观察,检测是否存在淋病,有助于识别FVH1患者。
OBJECTIVE: Autosomal dominant foveal hypoplasia (
FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity,
FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only includes isolated foveal hypoplasia and foveal hypoplasia with presenile cataract. The purpose of this report is to present our findings in four patients from two families with FVH1 without visible ophthalmic macular abnormalities.
METHODS: A review of the medical records of two families with
FVH1 and genetic confirmation of mutations in the PAX6 gene.
METHODS: Fundus photographs, optical coherence tomographic (OCT) and OCT angiographic (OCTA) images, and slit-lamp anterior segment findings were determined. The type of mutation of the PAX6 gene was determined.
RESULTS: A 3-year-old girl (Patient 1) had signs and symptoms of an impairment in the development of vision without other retinal abnormalities OU. OCT images showed a shallow foveal pit, and OCTA showed the absence of the foveal avascular zone. The second patient (Patient 2) was a 6-year-old girl with unilateral mild cataract and shallow foveal pits OU. Similar shallow foveal pits were found in her asymptomatic mother (Patient 3) and maternal grandfather (Patient 4). Although the iris and posterior fundus were normal, all patients with
FVH1 had goniodysgenesis. Genetic testing of the PAX6 gene revealed that Patient 1 had a novel heterozygous mutation (p.Asn365Lys) as a de novo mutation, and Patients 2, 3 and 4 had a novel heterozygous mutation (p.Pro20Ser).
CONCLUSIONS: Heterozygous mutations in the PAX6 gene can cause FVH1 with nearly normal appearing macula. FVH1 is difficult to diagnose, but detailed observations of the foveal structure and vasculature, and detecting the presence of goniodysgenesis can be helpful in identifying patients with
FVH1.