Clinical Ocular Abnormalitie in Infant With Triomy 13

Purpoe Previou report of ocular abnormalitie aociated with triomy 13 have decribed pathologic abnormalitie, with minimal decription of clinical finding. Thi report decribe the clinical finding in four infant with triomy 13. Deign Retropective noncomparative cae erie. Method Review of medical record of four infant with triomy 13. One patient underwent cataract urgery and treatment of Coat dieae. Reult All four infant had inferonaal iri coloboma with unilateral inferonaal cataract, primarily involving the poterior len urface. Two patient had pigmented tiue aociated with the cataract. Cataract urgery wa performed in one of the patient with good reult. Thi patient alo developed a unilateral exudative retinal detachment with peripheral telangiectatic veel. Thi reolved after treatment with cryotherapy. Concluion The cataract in thee infant with triomy 13 had imilar clinical feature, which were different than thoe een in other type of cataract in infant. In addition, one patient had Coat dieae, which ha not been previouly decribed in aociation with triomy 13. The preence of inferonaal iri coloboma and adjacent ectoral cataract in patient with other dymorphic finding hould prompt chromoomal analyi for triomy 13.