Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.M...Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.Methods: Two cases of Rieger syndrome which affected a patient and his daughter were studied. Multiple clinical examinations including photography of anterior segment, go-nioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicro-scope(UBM) was first used to show the abnormalities of anterior segment in this syndrome. Results: Gonioscopic examination revealed many mesoderm tissues remained and some parts of the iris adhered to cornea . In addition to hypoplasia of cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chomosome examination indicated normal.Conclusions: Rieger syndrome is an autosomal-dominated disorder with展开更多
文摘Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.Methods: Two cases of Rieger syndrome which affected a patient and his daughter were studied. Multiple clinical examinations including photography of anterior segment, go-nioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicro-scope(UBM) was first used to show the abnormalities of anterior segment in this syndrome. Results: Gonioscopic examination revealed many mesoderm tissues remained and some parts of the iris adhered to cornea . In addition to hypoplasia of cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chomosome examination indicated normal.Conclusions: Rieger syndrome is an autosomal-dominated disorder with
