Department of Ophthalmology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishiku, Kitakyushu 807-8555, Japan.
Jpn J Ophthalmol. 2012 Jul;56(4):396-400. doi: 10.1007/s10384-012-0145-4. Epub 2012 May 9.
To report a case of posterior microphthalmos caused by novel compound heterozygous mutations in the membrane-type frizzled-related protein (MFRP) gene.
A 9-year-old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing.
The patient had a short axial length, high hyperopia, crowded optic discs, and dilation and tortuosity of the retinal vessels. No signs of retinitis pigmentosa were present. A diagnosis of posterior microphthalmos rather than nanophthalmos was made because the corneal diameter and anterior chamber depth were normal. Genetic analysis revealed two novel nonsense mutations in the MFRP gene, Q123X and W443X. Her parents were heterozygous carriers of one of the mutations.
Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.
报告一例由膜型卷曲相关蛋白（MFRP）基因新型复合杂合突变引起的后部小眼症。
对 1 例 9 岁后部小眼症女孩进行标准眼科检查和直接测序的基因筛查。
患者眼轴短，高度远视，视盘拥挤，视网膜血管扩张和迂曲。无色素性视网膜炎的迹象。由于角膜直径和前房深度正常，作出后部小眼症而非小眼球的诊断。基因分析显示 MFRP 基因存在两个新的无义突变 Q123X 和 W443X。其父母均为其中一种突变的杂合携带者。
后部小眼症可由 MFRP 基因的无义复合杂合突变引起。
