Bilateral congenital aniridia: 5 case reports

INTRODUCTION: Aniridia is a rare familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. CASE REPORTS: A 44-Year-old man who complained of visual loss presented bilateral congenital aniridia with corneal dystrophy and dense cataract. His 12-Year-old daughter also presented visual loss with severe bilateral corneal dystrophy and total congenital cataract associated with aniridia. Two other daughters, 18 and 23 Years of age, and an 11-Year-old son had nystagmus with bilateral congenital cataract and ectopia lentis. Clinical and radiological investigations did not disclose evidence of extraocular abnormalities in this family. Three patients underwent cataract extraction without intraocular implantation and the aphakia was corrected with glasses. All three patients progressed well. DISCUSSION: This family provided a good illustration of the different clinical spectra of ocular involvement in congenital aniridia and its management difficulties, above all those of cataract surgery and correction of aphakia. CONCLUSION: Aniridia is a genetic disease with possible association with other ocular and systemic disorders, which may compromise visual and vital prognosis. Genetic advice is very important in such families.