Papillorenal syndrome other diagnostic studies

Overview

The exact criteria for Renal coloboma syndrome has not been established so far however by seing the patients clinically the findings of optic nerve coloboma and hypo dysplasia of kidneys are the characteristic abnormalities seen in patients with Renal coloboma syndrome. and out of thar nearly half of the patients havr mutation in PAX 2 Gene. It was first observes and concluded by Bower and Schimmenti.

Diagnostic

The exact criteria for Renal coloboma syndrome has not been established so far however by seing the patients clinically the findings of optic nerve coloboma and hypodysplasia of kidneys are the charactristic abnormalities seen in patients with Renal coloboma syndrome. and out of thar nearly half of the patients havr mutation in PAX 2 Gene. It was first observes and concluded by Bower and Scgimmenti.

The recommendation are like that the patients with Renal-coloboma syndrome should be evaluated with by an ophthalmologist with the eye examination mainly for retinal examination and optic nerve malformations

the patients with findings of optic nerve dysplasia should further undergo evaluation for blood pressure, serum electrolytes, Renal function test, and/or urinalysis for proteinuria and renal ultrasound.