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

Author

Prabu RV, Priyambada P, Ranjini H, and Wasnik RB

Subjects
Aged, Child, Humans, Mutation, Pedigree, Phosphotransferases (Alcohol Group Acceptor) genetics, Cardiomyopathies, Cataract diagnosis, Cataract genetics
Abstract

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., Competing Interests: None

Published
2020
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