Pearce W G, Mielke B C, Kulak S C, Walter M A
The University of Alberta, Department of Ophthalmology, Canada, Alberta, Edmonton,
Ophthalmic Genet. 1999 Jun;20(2):83-8. doi: 10.1076/opge.20.2.83.2294.
Iridogoniodysgenesis is an autosomal dominant disorder in which there are abnormalities in the development of the iris stroma and trabecular meshwork tissues commonly resulting in glaucoma. The unoperated eye from an affected member of a family with iridogoniodysgenesis syndrome (IGDS) was removed shortly after death. Histopathological studies showed an incomplete, normally positioned line of Schwalbe and iris stromal hypoplasia. The molecular basis underlying the disorder is a missense mutation in the RIEG gene at 4q25, mutations of which have been previously shown to cause Axenfeld-Rieger syndrome (ARS). Coupled with another report of a missense mutation of the RIEG gene in a family with IGDS, we suggest that these mutations may interfere less with gene function and thereby may be responsible for a milder phenotype than occurs in the more characteristic ARS.
虹膜角膜内皮发育不良是一种常染色体显性疾病，其虹膜基质和小梁网组织发育异常，通常会导致青光眼。一名患有虹膜角膜内皮发育不良综合征（IGDS）的家庭成员在死后不久，其未手术的眼睛被摘除。组织病理学研究显示施瓦贝线不完整但位置正常，以及虹膜基质发育不全。该疾病的分子基础是位于4q25的RIEG基因中的一个错义突变，此前已证明该基因的突变会导致Axenfeld-Rieger综合征（ARS）。结合另一例关于IGDS家族中RIEG基因错义突变的报告，我们认为这些突变对基因功能的干扰可能较小，因此可能导致比更典型的ARS更轻微的表型。
