Borchert Laboratory

Research Topics

  • Optic Nerve Hypoplasia

  • Non-Invasive Imagine Technology

Research Overview

Optic Nerve Hypoplasia Research

The research of Mark Borchert, MD, primarily focuses on the development of the optic nerve and its retinotopic connections in the tectum (part of the midbrain) and thalamus (part of the forebrain). He is interested in the role that inaccurate or inadequate development of these connections plays in the pathogenesis of optic nerve hypoplasia.

Dr. Borchert directs the world’s largest study into optic nerve hypoplasia, now the single leading cause of blindness in infants in the United States and Europe. The study has produced numerous publications and contributed vastly to knowledge of the syndrome, furthering our understanding of prenatal characteristics of children with ONH, as well as endocrinological, developmental and vision outcomes for these children.

Research in Progress

  • ONH Registry Study
  • ONH Disease Distribution Survey
  • Endocrine Dysfunction and Growth Hormone Deficiency in Children With ONH
  • Identification and Treatment of Sleep Dysfunction in Children With ONH
  • Autism in Children With Vision Impairment

Eye Technology Research

The Eye Technology Institute has been a leader in discovering new advances in ophthalmic medical equipment for several years. With holding several patents throughout the United States, Canada and Mexico, we plan to expand our reach to a global level to improve treatments for visual complex diseases. Our mission doesn’t stop there; we are also in collaboration with the world-renowned Jet Propulsion Laboratory and The California Institute of Technology to guarantee we endow the utmost reliable resources possible and unite with award winning technology specialists and researchers.

Dr. Mark Borchert and Dr. James Lambert’s research primarily focuses on the development of non-invasive technology to determine glucose measurements, intracranial pressure and acuity measurements. They are able to take a precise analysis of the eye by using vital instruments that can be used to develop equipment for such particular treatments.

Research In Progress

  • Development of non-invasive glucose monitor
  • Non-invasive measurement of intracranial pressure
  • Development of non-contact eye tracking and acuity measurement for pre-verbal children
  • Preferential looking test
  • Raman spectroscopy

Key Findings

  • Pioneered the use of spectroscopy to measure glucose levels in the eye.
  • Developed the ONH portal to assist families with resources.
  • Increased understanding of associations between vision, endocrine and neurological status with developmental outcomes in children with ONH.
  • Clarified birth and prenatal characteristics of children with ONH.
  • Identified phenomenon of evolving hypothyroidism in ONH and implemented annual surveillance endocrine testing as standard of care for children with ONH. 

Funding

  • National Institute of Health (NIH)
  • One Small Voice Foundation
  • Karl Kirchgessner Foundation
  • Southern California Clinical and Translational Science Institute (SC CTSI)
  • Prevent Blindness America
  • Genentech, Inc.
  • Thrasher Research Fund
  • Joseph Drown Foundation