Ontology highlight
ABSTRACT:
SUBMITTER: Tandon M
PROVIDER: S-EPMC6857771 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Molecular vision 20191114
<h4>Purpose</h4>This report discusses a case of North Carolina macular dystrophy (NCMD) in a 7-year-old boy initially diagnosed as congenital toxoplasmosis. Genetic testing was performed on the child and his family after the suspicion of NCMD was raised by the treating ophthalmologist. This case report highlights the similarities between congenital toxoplasmosis and NCMD.<h4>Methods</h4>DNA was collected from the family with consent and underwent comparative genomic hybridization and Sanger sequ ...[more]