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Rieger syndrome is characterized by the association of an ocular malformation with other anomalies such as dental agenesis or hypoplasia, bone malformations (hypoplasic maxillary bones, hypertelorism), and umbilical hernias, oncephalocele, Meckel`s diverticulum, malformed external genitalia, or myotonic dystrophy. The ocular malformation is present at birth and consists of ectopic irides or polycoria (multiple pupils) and is associated with glaucoma in 50% of cases. The syndrome is transmitted as an autosomal dominant trait for which two causative genes have been identified. The first gene to be cloned was RIEG1 on chromosome 4 (q25-q26). It codes for a protein called solurshine, for which the function is currently being studied. A second gene (RIEG1) located on 13q14 has also been identified. Genetic counseling is a crucial aspect of management in this disease. Treatment is symptomatic only. Regular glaucoma management is essential as it conditions the eyesight in young patients. |