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A 45-year-old man presented to the ophthalmology department with visual symptoms in his left eye. Almost two decades ago, he required a renal transplant for focal segmental glomerular sclerosis and a detailed enquiry revealed a strong family history of renal and ocular disease. Fundus examination demonstrated significant optic disc dysplasia in his left eye and optical coherence tomography showed intraretinal fluid bilaterally. The diagnosis of papillorenal syndrome was suspected and genetic testing identified a heterozygous pathogenic variant in the PAX2 gene c.76dupG, p.Val26Glyfs*28, confirming the diagnosis. The patient was treated conservatively, and his vision eventually improved and stabilised. His renal disease and transplant were concurrently monitored by nephrologists. In this case, history-taking and ophthalmic examination raised suspicion of this rare systemic condition, which led to genetic testing and molecular confirmation of the diagnosis. We therefore highlight this case to raise awareness of papillorenal syndrome, which has significant systemic implications and also impacts familial screening and genetic counselling.

Original publication




Journal article


BMJ case reports

Publication Date





Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, UK


Humans, Coloboma, Vesico-Ureteral Reflux, Middle Aged, Male, Renal Insufficiency, PAX2 Transcription Factor