Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder

Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome. People with this condition typically have kidneys that are small and underdeveloped (hypodysplastic), which can lead to end-stage renal dise...

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Autores principales: Jayanthan, S. Shanmuga, Ganesh, Rajagopal, Karunakaran, Narayanan, Mukuntharajan, T., Manodoss, A. Nancy, Dedhia, Karan, Nadanasadharam, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10132869/
https://www.ncbi.nlm.nih.gov/pubmed/37123577
http://dx.doi.org/10.1055/s-0042-1760282
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author Jayanthan, S. Shanmuga
Ganesh, Rajagopal
Karunakaran, Narayanan
Mukuntharajan, T.
Manodoss, A. Nancy
Dedhia, Karan
Nadanasadharam, K.
author_facet Jayanthan, S. Shanmuga
Ganesh, Rajagopal
Karunakaran, Narayanan
Mukuntharajan, T.
Manodoss, A. Nancy
Dedhia, Karan
Nadanasadharam, K.
author_sort Jayanthan, S. Shanmuga
collection PubMed
description Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome. People with this condition typically have kidneys that are small and underdeveloped (hypodysplastic), which can lead to end-stage renal disease. It has been estimated that approximately 10% of children with hypoplastic kidneys may have renal coloboma syndrome. The eye anomalies consist of a wide and dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, frequently called optic nerve coloboma.
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spelling pubmed-101328692023-04-27 Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder Jayanthan, S. Shanmuga Ganesh, Rajagopal Karunakaran, Narayanan Mukuntharajan, T. Manodoss, A. Nancy Dedhia, Karan Nadanasadharam, K. Indian J Radiol Imaging Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome. People with this condition typically have kidneys that are small and underdeveloped (hypodysplastic), which can lead to end-stage renal disease. It has been estimated that approximately 10% of children with hypoplastic kidneys may have renal coloboma syndrome. The eye anomalies consist of a wide and dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, frequently called optic nerve coloboma. Thieme Medical and Scientific Publishers Pvt. Ltd. 2023-01-06 /pmc/articles/PMC10132869/ /pubmed/37123577 http://dx.doi.org/10.1055/s-0042-1760282 Text en Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Jayanthan, S. Shanmuga
Ganesh, Rajagopal
Karunakaran, Narayanan
Mukuntharajan, T.
Manodoss, A. Nancy
Dedhia, Karan
Nadanasadharam, K.
Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title_full Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title_fullStr Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title_full_unstemmed Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title_short Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
title_sort renal coloboma syndrome—an autosomal dominant genetic disorder
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10132869/
https://www.ncbi.nlm.nih.gov/pubmed/37123577
http://dx.doi.org/10.1055/s-0042-1760282
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