Cargando…
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...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
|
Materias: | |
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 |
Sumario: | 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. |
---|