title: Early diagnosis of the papillorenal syndrome by optic disc morphology.
abstract: The morphology of optic disc dysplasia is the most consistent finding in the papillorenal syndrome, an autosomal-dominant syndrome of eye and kidney maldevelopment often associated with the PAX2 mutation. In the absence of a recognized family history, the diagnosis is typically not made until renal disease is evident. We report an infant whose characteristic fundus findings led to the early diagnosis of the papillorenal syndrome before the potential development of renal dysfunction.
authors.affiliation: Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Sawsan R
authors.initials: SR
authors.lastname: Nowilaty
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D019842:Ciliary Arteries / Q000000981:diagnostic imaging; D003103:Coloboma / Q000175:diagnosis*; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016030:Kidney Transplantation; D008297:Male; D009898:Optic Disk / Q000002:abnormalities* / Q000098:blood supply / Q000473:pathology*; D009900:Optic Nerve / Q000002:abnormalities / Q000098:blood supply; D010375:Pedigree; D051437:Renal Insufficiency / Q000175:diagnosis; D013577:Syndrome; D018608:Ultrasonography, Doppler