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

Rajesh V Prabu, Parul Priyambada, H Ranjini, Rajlaxmi B Wasnik

Indian journal of ophthalmology 2020 Nov

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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.

Citation

Rajesh V Prabu, Parul Priyambada, H Ranjini, Rajlaxmi B Wasnik. A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome. Indian journal of ophthalmology. 2020 Nov;68(11):2567-2569