FP1282 : A Rare Presentation of Congenital Aniridia with Thrombocytopenia

Dr. Megha G, G18564, Dr. Shreeshruthi N, Dr. Shubhratha S. Hegde, Dr. C. Suria Rashmi

Aniridia is complete or partial absence of the iris. About 1/3rd of isolated aniridia cases are sporadic. Sporadic cases may be associated with various systemic disorders, such as WAGR syndrome. Thrombocytopenia is associated with many systemic syndromes. We report a first known classical presentation of congenital aniridia associated with thrombocytopenia.

Case report: A 22 year old female came with insidious onset loss of vision in both eyes since childhood. She gave history of multiple episodes of excess bleeding during menstruation. History of vision loss in BE in mother. On examination, she was found to have congenital aniridia with nystagmus, foveal hypoplasia and no perception of light BE with RE subluxated IOL and LE surgical aphakia. On investigating she had thrombocytopenia with microcytic hypochromic anaemia.

Conclusion: a complete work up is must to rule out systemic associations.This case may add a new finding to the ocular manifestations in bone marrow failure syndromes.

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