CONGENITAL ANIRIDIA

Abstract

Introduction: Congenital aniridia is very rare bilateral disorder with partial or total absence of the iris. It may be found unilaterally but very rare and it is common for male and female. Purpose: Aniridia to be proved as genetic disease. It is inherit autosomal dominant, rarely recessive especially in children whose parents are blood related. Absence of the iris is due to developmental disorder of mesodermal tissue. Special detailed examinations are conducting in children born with aniridia because of suspicion for Wilms' tumor, urogenital anomalies, polydactylism, mental retardation, eye disorder as: congenital glaucoma, ectopic or luxate lens, nistagmus, foveolar aplasia and other. Material and methods: In period of three years at Ophtalmological Department in Medical Center - Kumanovo five patients with aniridia are followed. They are blood related: three brothers, wife of the oldest brother (blood related) and their eight year daughter. Patients are aged from eight to thirty eight years. Results: In all five patients is proved blood relation an genetic abnormality: congenital aniridia; congenital glaucoma in three of them; secondary glaucoma in two patients (mother and daughter); nistagmus in three patients; strabismus and mental retardation in one of the patients; scleral staphyloma in two patients. Patients are treated with conservative and surgical therapy. Conclusion: Aniridia is rare hereditary disease and which has to be properly detected on time and treated conservatively and surgically especially with lens application with peripheral turbidity.