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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 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 also hypoplasia of ciliary body. The result of the chomosome examination indicated normal. Conclusions: Rieger syndrome is an autosomal-dominat ed disorder with m