Renal Coloboma Syndrome Overview

Save information for later
Sign Up

Learn About Renal Coloboma Syndrome

What is the definition of Renal Coloboma Syndrome?
Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with Renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss. The syndrome has an autosomal dominant pattern of inheritance and can be caused by genetic changes in the PAX2 gene. In about half of cases, the underlying cause can not be determined.
What are the alternative names for Renal Coloboma Syndrome?
  • Renal coloboma syndrome
  • Coloboma of optic nerve with renal disease
  • Optic coloboma, vesicoureteral reflux, and renal anomalies
  • Optic nerve coloboma with renal disease
  • Papillorenal syndrome
Who are the top Renal Coloboma Syndrome Local Doctors?
Elite in Renal Coloboma Syndrome
Kengo Furuichi
Elite in Renal Coloboma Syndrome
Kengo Furuichi
Kanazawa, JP 

Kengo Furuichi practices in Kanazawa, Japan. Mr. Furuichi is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. His top areas of expertise are Renal Coloboma Syndrome, Diabetic Nephropathy, Coloboma, Wilson Disease, and Kidney Transplant.

Elite in Renal Coloboma Syndrome
Yuta Yamamura
Elite in Renal Coloboma Syndrome
Yuta Yamamura
Kanazawa, JP 

Yuta Yamamura practices in Kanazawa, Japan. Mr. Yamamura is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. His top areas of expertise are Renal Coloboma Syndrome, Coloboma, Cerebral Hypoxia, and Diabetic Nephropathy.

 
 
 
 
Learn about our expert tiers
Learn More
Distinguished in Renal Coloboma Syndrome
Kandai Nozu
Distinguished in Renal Coloboma Syndrome
Kandai Nozu
Kobe, JP 

Kandai Nozu practices in Kobe, Japan. Nozu is rated as a Distinguished expert by MediFind in the treatment of Renal Coloboma Syndrome. Their top areas of expertise are Bartter Syndrome, Alport Syndrome, Nephrotic Syndrome, Nephrectomy, and Kidney Transplant.

View All Doctors
What are the latest Renal Coloboma Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center