DR.DARSHINI L M

DR. JYOTI MATALIA, DR.PRATIBHA PANMAND, DR. B.A.MAITHRI

Abstract

INTRODUCTION

Papillorenal syndrome is a rare inherited disorder affecting the development of kidneys and eyes due to altered gene expression.

CASE REPORT

A 5 year old male child was referred to our clinic by a pediatric nephrologist for eye evaluation. He was a known case of Chronic Kidney Disease stage 4 and seizure disorder, was on treatment for the same. Genetic test revealed PAX 2 gene mutation and abdominal ultrasound showed bilateral small sized kidneys with grade 2 renal parenchymal changes.

On examination, vision and anterior segment were normal. Dilated fundus examination showed large optic disc with absent or rudimentary central retinal vessels with peripherally exiting tortuous retinal vessels – suggestive of megalopapillae, thus confirming papillorenal syndrome.

CONCLUSION

Papillorenal syndrome should be ruled out in patients with optic disc dysplasia with co-existing renal hypoplasia. Genetic testing and timely work up can prevent serious systemic complications.