| Title |
Early Diagnosis of the Papillorenal Syndrome by Optic Disc Morphology |
| Creator |
Khan, AO; Nowilaty, SR |
| Affiliation |
Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu |
| 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. |
| Subject |
Abnormalities, Multiple, diagnosis; Adult; Ciliary Arteries, ultrasonography; Coloboma, diagnosis; Fluorescein Angiography; Humans; Infant; Kidney, abnormalities; Kidney, ultrasonography; Kidney Failure, diagnosis; Kidney Transplantation; Male; Optic Disk, abnormalities; Optic Disk, blood supply; Optic Disk, pathology; Optic Nerve, abnormalities; Optic Nerve, blood supply; Pedigree; Syndrome; Ultrasonography, Doppler |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
225439 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s69058t8/225439 |
