Renal Coloboma Syndrome
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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 practicing medicine in Kanazawa, Japan. Mr. Furuichi is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Renal Coloboma Syndrome, Diabetic Nephropathy, Coloboma, Kidney Transplant, and Nephrectomy.

Elite in Renal Coloboma Syndrome
Yasunori Iwata
Elite in Renal Coloboma Syndrome
Yasunori Iwata
Kanazawa, JP 

Yasunori Iwata practices practicing medicine in Kanazawa, Japan. Iwata is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. They are also highly rated in 10 other conditions, according to our data. Their clinical expertise encompasses Renal Coloboma Syndrome, Diabetic Nephropathy, Coloboma, and Glomerulonephritis.

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

Yuta Yamamura practices practicing medicine in Kanazawa, Japan. Mr. Yamamura is rated as an Elite expert by MediFind in the treatment of Renal Coloboma Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Renal Coloboma Syndrome, Coloboma, Diabetic Nephropathy, Cerebral Hypoxia, and Heart Transplant.

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