Discovery of a novel genetic variation in papillorenal syndrome
DOI:
https://doi.org/10.16964/er.v7i1.101Keywords:
optic nerve coloboma, optic nerve dysplasia, renal coloboma syndrome, papillorenal syndrome, PAX2 geneAbstract
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).
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- Figure 1. Fundus examination revealed pathologic optic nerves with a large central excavation and radial disposition and peripheral exit of the retinal vessels.
- Figure 2. The Optical Coherence Tomography (OCT) proved a significant thinning of the retinal nerve fiber layer on both eye papillae.
- Figure 3. Humphrey visual field test confirmed an inferior and superior altitudinal defect in the right eye (OD), and a superior nasal step and an increased blind spot in the left eye (OS).
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