1.
Indian J Ophthalmol
; 68(11): 2567-2569, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33120694
RESUMO
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.