Rieger syndrome.

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, gonioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicroscope (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 cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chromosome examination indicated normal.

CONCLUSIONS

Rieger syndrome is an autosomal-dominated disorder with mesoderm dysgenesis. Recent researches have confirmed that a locus for this syndrome maps to 4q25. Besides hypoplasia of cornea, iris and chamber angle, its ocular phenotype maybe include dysgenesis of ciliary body which is probably one of the reasons of secondary glaucoma.