Renal Coloboma Syndrome Overview

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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
Takashi Wada
Elite in Renal Coloboma Syndrome
Takashi Wada
Kanazawa, JP 

Takashi Wada practices in Kanazawa, Japan. Mr. Wada is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. His top areas of expertise are Diabetic Nephropathy, Renal Coloboma Syndrome, Wilson Disease, Pancreaticoduodenectomy, and Hepatectomy.

 
 
 
 
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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, Diabetic Nephropathy, and Cerebral Hypoxia.

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