126 PHENOTYPIC VARIABILITY IN A THREE GENERATION FAMILY WITH RIEGER SYNDROME

Rieger syndrome is an autosomal dominant condition characterized by anterior segment abnormalities of the eye, dental anomalies, minor dysmorphic features and redundant periumbilical skin. The eye anomalies in Rieger syndrome range from the very mild forms of anterior segment dysgenesis like hypoplasia of the anterior iris stroma and posterior embryotoxon, to more severe anomalies all of which can lead to glaucoma and blindness. Most families with Rieger syndrome are ascertained because of eye abnormalities. We report a newborn admitted to the Special Care Nursery for prematurity and noted to have an abnormal umbilical stump and mild dysmorphic features. A review of the family history revealed umbilical abnormalities in 5/7 and dental anomalies in 4/7 immediate family members but no history of eye abnormalities except for one distant case of glaucoma. An Ophthalmological exam of our patient showed posterior embryotoxon. Based on these findings and the family history, the newborn was diagnosed with Rieger syndrome. Further ophthalmological investigation of the family showed mild forms of anterior segment dysgenesis (anterior iris stroma hypoplasia) in all individuals with umbilical abnormalities. In addition, the mother of our patient had ocular hypertension. This family illustrates the phenotypic variability of this condition and stresses the importance of early diagnosis and complete ophthalmologic and dental assessment which will favorably affect the significant morbidity associated with Rieger syndrome.