{Reference Type}: Case Reports
{Title}: [A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
{Author}: Liu XY;Tao YF;Mao YK;Chen ZJ;Wang Y;Hong YF;Fan N;
{Journal}: Zhonghua Yan Ke Za Zhi
{Volume}: 60
{Issue}: 1
{Year}: 2024 Jan 11
暂无{DOI}: 10.3760/cma.j.cn112142-20231012-00134
{Abstract}: This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure persisting for over a month. The peak intraocular pressure reached approximately 25 mmHg (1 mmHg=0.133 kPa) in both eyes, with a corneal diameter of less than 10 mm. Ocular examination revealed an enlarged cup-to-disc ratio, and optical coherence tomography (OCT) demonstrated thinning of the retinal nerve fiber layer and ganglion cell layer. Ultrasound biomicroscopy combined with gonioscopy indicated partial angle closure and abnormal anterior chamber angle development. The ocular manifestations in the twin brother were consistent with those observed in the twin sister. The clinical diagnosis was bilateral developmental glaucoma with microcornea. Genetic sequencing identified two novel compound heterozygous mutations in the ADAMTS18 gene in the twins: Mutation 1 (M1) involving the variant site 1 (c.3436C>T:p.R1146W) and Mutation 2 (M2) involving the variant site 2 (c.1454T>G:p.F485C). Ocular examinations of four additional family members were normal. Genetic testing revealed that the twins' father and sister carried M1, while the index case's mother and brother carried M2. This report underscores a unique association between ADAMTS18 gene mutations and developmental glaucoma with microcornea within a familial context, emphasizing the importance of genetic screening for early diagnosis and targeted management strategies.<BR>先证者为5岁双胞胎之胞弟，体检发现双眼眼压高1个月余，双眼眼压峰值均达25 mmHg（1 mmHg=0.133 kPa）左右，角膜横径<10 mm，眼底视杯与视盘直径比（杯盘比）扩大，相干光层析成像术（OCT）显示视网膜神经纤维层和节细胞层变薄，超声活体显微镜结合房角镜检查提示部分房角关闭，前房角发育异常。胞兄眼部表现与胞弟一致。临床诊断为双眼发育性青光眼伴小角膜。经基因测序检出双胞胎同时携带有ADAMTS18基因的2个新复合杂合突变，即M1（变异位点1）：c.3436C>T：p.R1146W和M2（变异位点2）：c.1454T>G：p.F485C；家系另外4名成员眼部检查正常，基因检测发现双胞胎父亲及姐姐携带M1，双胞胎母亲及哥哥携带M2。.