Yu Changhong, Hu Zhengmao, Li Jingzhi, Liu Ting, Xia Kun, Xie Lixin
College of Medicine, Qingdao University, Qingdao, China.
Mol Vis. 2009 May 8;15:949-54.
To evaluate the clinical, histopathologic, and genetic characteristics of a microphthalmia pedigree.
A five-generation Chinese family with microphthalmia was recruited. Clinical and histological examinations were performed in the affected patients and their family members. Cyrillic software was used to map the pedigree. Genomic DNA was extracted from peripheral blood, and linkage analysis was performed using short tandem repeat polymorphism markers. Two-point LOD scores were calculated using the MLINK program.
Microphthalmia was inherited in an autosomal dominant manner in this family. All nine affected members had hyperopia (mean: +8.00 diopters) and physiologically reduced axis oculi (mean: 19.29 mm) with a visual acuity of less than 0.5. Refractory angle-closure glaucoma occurred in three of them and atrophia bulbi in two. Histological examination showed diffuse degenerated collagen fibers in the scleral stroma. Two-point LOD score linkage analysis excluded all known genetic loci associated with simple microphthalmia in all patients.
Simple microphthalmia was dominantly inherited in this Chinese pedigree with typical phenotypes, which resulted in severe visual deterioration by middle age. A novel locus is predicted to be responsible for the microphthalmia in this family, which may prove a high genetic heterogeneity in microphthalmia.
评估一个小眼畸形家系的临床、组织病理学和遗传学特征。
招募了一个五代的小眼畸形中国家系。对患病患者及其家庭成员进行了临床和组织学检查。使用西里尔软件绘制家系图谱。从外周血中提取基因组DNA，并使用短串联重复多态性标记进行连锁分析。使用MLINK程序计算两点LOD分数。
在这个家系中，小眼畸形以常染色体显性方式遗传。所有九名患病成员均有远视（平均：+8.00屈光度）和生理性眼轴缩短（平均：19.29毫米），视力低于0.5。其中三人发生难治性闭角型青光眼，两人发生眼球萎缩。组织学检查显示巩膜基质中弥漫性变性的胶原纤维。两点LOD分数连锁分析排除了所有患者中与单纯小眼畸形相关的所有已知基因位点。
在这个具有典型表型的中国家系中，单纯小眼畸形呈显性遗传，到中年时会导致严重的视力恶化。预计一个新的基因座与该家系的小眼畸形有关，这可能证明小眼畸形存在高度的遗传异质性。
