Open AccessA case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder–Sengers Syndrome
Author(s) -
Rajesh Prabu,
Parul Priyambada,
H Ranjini,
Rajlaxmi B Wasnik
Publication year - 2020
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_760_20
Subject(s) - medicine , hypertrophic cardiomyopathy , sibling , mutation , pediatrics , genetic disorder , myopathy , genetics , gene , pathology , disease , psychology , developmental psychology , biology
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.