Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder

Autor:	S. Shanmuga Jayanthan, Rajagopal Ganesh, Narayanan Karunakaran, T. Mukuntharajan, A. Nancy Manodoss, Karan Dedhia, K. Nadanasadharam
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	optic nerve dysplasia papillorenal syndrome renal coloboma syndrome Medical physics. Medical radiology. Nuclear medicine R895-920
Zdroj:	Indian Journal of Radiology and Imaging, Vol 33, Iss 02, Pp 260-263 (2023)
Druh dokumentu:	article
ISSN:	0971-3026 1998-3808
DOI:	10.1055/s-0042-1760282
Popis:	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.
Databáze:	Directory of Open Access Journals
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