Papillorenal syndrome other diagnostic studies
Overview
The exact criteria for Renal coloboma syndrome have not been established so far however by seeing 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 that nearly half of the patients have a mutation in PAX 2 Gene. It was first observed and concluded by Bower and Schimmenti.
Diagnostic
The exact criteria for Renal coloboma syndrome[1] has not been established so far however by seeing the patients clinically the findings of optic nerve coloboma and hypodysplasia of kidneys are the characteristics abnormalities seen in patients with Renal coloboma syndrome. and out of that nearly half of the patients have a mutation in PAX 2 Gene. It was first observed and concluded by Bower and Scgimmenti.
The recommendation is 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.
References
- ↑ Schimmenti LA (December 2011). "Renal coloboma syndrome". Eur. J. Hum. Genet. 19 (12): 1207–12. doi:10.1038/ejhg.2011.102. PMC 3230355. PMID 21654726.