A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome

Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic...

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Autores principales: Prabu, Rajesh V, Priyambada, Parul, Ranjini, H, Wasnik, Rajlaxmi B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7774168/
https://www.ncbi.nlm.nih.gov/pubmed/33120694
http://dx.doi.org/10.4103/ijo.IJO_760_20
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author Prabu, Rajesh V
Priyambada, Parul
Ranjini, H
Wasnik, Rajlaxmi B
author_facet Prabu, Rajesh V
Priyambada, Parul
Ranjini, H
Wasnik, Rajlaxmi B
author_sort Prabu, Rajesh V
collection PubMed
description Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic cardiomyopathy. They have a deceased elder sibling who was operated for cataract earlier.
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spelling pubmed-77741682021-01-07 A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome Prabu, Rajesh V Priyambada, Parul Ranjini, H Wasnik, Rajlaxmi B Indian J Ophthalmol Case Reports Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic cardiomyopathy. They have a deceased elder sibling who was operated for cataract earlier. Wolters Kluwer - Medknow 2020-11 2020-10-26 /pmc/articles/PMC7774168/ /pubmed/33120694 http://dx.doi.org/10.4103/ijo.IJO_760_20 Text en Copyright: © 2020 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Prabu, Rajesh V
Priyambada, Parul
Ranjini, H
Wasnik, Rajlaxmi B
A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title_full A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title_fullStr A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title_full_unstemmed A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title_short A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
title_sort case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—sengers syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7774168/
https://www.ncbi.nlm.nih.gov/pubmed/33120694
http://dx.doi.org/10.4103/ijo.IJO_760_20
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