EPOS

European Paediatric Ophthalmological Society

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Papillo-renal syndrome: A new PAX2 mutation

Williams Christopher, Marsh Catherine, Temple Karen, Hodgkins Peter
¹Southampton Eye Unit, ²Wessex Clinical genetics Service, Southampton

Purpose : To describe a novel genetic mutation found in papillorenal syndrome (renal-coloboma syndrome). Methods A case report and literature review. Results: A 31 year old woman with slowly progressive renal failure presented with gradual visual loss. Bilateral optic disc colobomata were present with an associated central serous retinopathy (CSR) in the left eye. Vitrectomy with peripapillary laser photocoagulation was successful in improving the vision. DNA analysis for mutations in the PAX2 gene showed the patient to be heterozygous for a previously undescribed stop mutation. Conclusion: Papillorenal syndrome can be caused by a stop mutation in exon 2 of the PAX2 gene. Vitrectomy and photocoagulation can be used to treat visual impairment secondary to CSR.