Discovery of a novel genetic variation in papillorenal syndrome

Irune Ortega Renedo, Ana Ibáñez Muñoz, Cristina Ibáñez Muñoz, María Rozanova Klecheva, Leticia Rodríguez Vicente, Jensy Sosa Durán, José Luis del Río Mayor


Renal coloboma syndrome or papillorenal syndrome is an autosomal dominant genetic disorder characterized by congenital renal and ocular disorders associated with variations in the PAX2 gene.  In this case report, a 46-year-old gentleman presented for ocular examination in the setting of systemic hypertension.  Past medical history included a kidney transplant due to renal failure.  Fundus examination revealed bilateral optic nerve abnormalities with a large central excavation, with numerous vessels radiating from the periphery of the optic disc, consistent with the Morning Glory anomaly.  Optical coherence tomography (OCT) disclosed substantial thinning of retinal nerve fiber layer.  Genetic studies revealed the heterozygous variant c.398delC in the 3’ exon of PAX2 gene not previously described in the peer-reviewed medical literature (searched using MEDLINE and cross-referenced literature).


optic nerve coloboma; optic nerve dysplasia; renal coloboma syndrome; papillorenal syndrome; PAX2 gene


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