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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| Format: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2023-04-01
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| Series: | Indian Journal of Radiology and Imaging |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1760282 |
| _version_ | 1797815147406819328 |
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| author | S. Shanmuga Jayanthan Rajagopal Ganesh Narayanan Karunakaran T. Mukuntharajan A. Nancy Manodoss Karan Dedhia K. Nadanasadharam |
| author_facet | S. Shanmuga Jayanthan Rajagopal Ganesh Narayanan Karunakaran T. Mukuntharajan A. Nancy Manodoss Karan Dedhia K. Nadanasadharam |
| author_sort | S. Shanmuga Jayanthan |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T08:18:23Z |
| format | Article |
| id | doaj.art-1d0cff868b6d4cfa91c93b2ae10679ef |
| institution | Directory Open Access Journal |
| issn | 0971-3026 1998-3808 |
| language | English |
| last_indexed | 2024-03-13T08:18:23Z |
| publishDate | 2023-04-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Radiology and Imaging |
| spelling | doaj.art-1d0cff868b6d4cfa91c93b2ae10679ef2023-05-31T12:18:03ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Radiology and Imaging0971-30261998-38082023-04-01330226026310.1055/s-0042-1760282Renal Coloboma Syndrome—An Autosomal Dominant Genetic DisorderS. Shanmuga Jayanthan0Rajagopal Ganesh1Narayanan Karunakaran2T. Mukuntharajan3A. Nancy Manodoss4Karan Dedhia5K. Nadanasadharam6Department of Radiology, Meenakshi Hospital, Tanjore, Tamil Nadu, IndiaDepartment of Radiodiagnosis, Meenakshi Mission Hospital and Research Centre, Madurai, Tamil Nadu, IndiaDepartment of Radiodiagnosis, Meenakshi Mission Hospital and Research Centre, Madurai, Tamil Nadu, IndiaDepartment of Radiodiagnosis, Meenakshi Mission Hospital and Research Centre, Madurai, Tamil Nadu, IndiaDepartment of Radiodiagnosis, Meenakshi Mission Hospital and Research Centre, Madurai, Tamil Nadu, IndiaDepartment of Radiodiagnosis, Meenakshi Mission Hospital and Research Centre, Madurai, Tamil Nadu, IndiaDepartment of Radiology, Meenakshi Hospital, Tanjore, Tamil Nadu, IndiaRenal 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1760282optic nerve dysplasiapapillorenal syndromerenal coloboma syndrome |
| spellingShingle | S. Shanmuga Jayanthan Rajagopal Ganesh Narayanan Karunakaran T. Mukuntharajan A. Nancy Manodoss Karan Dedhia K. Nadanasadharam Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder Indian Journal of Radiology and Imaging optic nerve dysplasia papillorenal syndrome renal coloboma syndrome |
| 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 |
| topic | optic nerve dysplasia papillorenal syndrome renal coloboma syndrome |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1760282 |
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