Journal of Pediatric Neurology and Medicine

Miriam Ehrenberg

Publications

• Research Article
  Blue Cone Monochromacy Causes Deterioration in Visual Acuity and Color Vision in a Boy
  Author(s): Shirel Weiss, Lily Bazak, Miriam Ehrenberg, Rachel Straussberg and Nitza Goldenberg-CohenShirel Weiss, Lily Bazak, Miriam Ehrenberg, Rachel Straussberg and Nitza Goldenberg-Cohen
  
  Purpose: To present the genetic cause of progressive deterioration in visual acuity and color vision in a child with high myopia and strabismus. Here we describe a novel x-linked mutation in the opsin 1 medium-wave-sensitive (OPN1MW) gene in a child, leading to cone rod dystrophy. Setting/Venue: Trio whole-exome sequencing (WES). Methods: We reviewed the clinical data and eye exams including family history since the patient's first visit 2008. Further evaluation included fundus photography, optical coherence tomography and electroretinography. The child was also referred to neurological assessment and magnetic resonance imaging was performed. Genetic evaluation included the extraction of DNA from peripheral blood leukocytes, trio WES and bioinformatics analysis using the Burrows-Wheeler Aligner (BWA) and the Ge.. Read More»
  DOI: 10.4172/2472-100x.1000111

  Abstract PDF