Mark Borchert, MD

Associate Professor of Clinical Ophthalmology and Neurology
University of Southern California, Keck School of Medicine
Director of the Eye Birth Defects Institute and Eye Technology Institute in the Vision Center at Children’s Hospital Los Angeles

Mark S. Borchert, MD is founder and former director of The Vision Center at Children’s Hospital Los Angeles.  His research is devoted to  the functional and anatomical development of the visual system. He directs the longest prospective research program on the epidemiology, pathophysiology and clinical spectrum of optic nerve hypoplasia in North America. He is also developing diagnostic tools for measuring vision and predicting outcomes in children with cortical visual impairment. 

Abstract:
Optic malformations and other optic neuropathies

Optic nerve hypoplasia (ONH) has surpassed retinopathy of prematurity as the leading cause of permanent congenital blindness in the developed world. It is second only to brain injury as a congenital cause of any vision impairment. Awareness of ONH ascended in the 1980’s following the recognition of its association with brain malformations and hypothalamic dysfunction. Simultaneously, elucidation of the role of homeobox genes in brain development and organization led to the assumption that ONH must be due to genetic mutations. Three decades later, numerous genetic mutations have been found, but no definitive association with any mutation has been determined. Environmental causes have been suggested for what appears to be an epidemic of ONH cases, but epidemiologic associations have been few. This lecture will explore the history of our understanding of the etiology of ONH and suggest next steps to uncover its etiology.

Arne Stray Pedersen

Professor in Forensic Pathology and Clinical Forensic Medicine
University of Oslo and Oslo University Hospital.

Arne Stray-Pedersen, M.D. Ph.D., Professor and senior consultant in forensic medicine at Oslo university hospital and University of Oslo. Norwegian native, 49 years old, married with three children. Graduated from Univ. of Bergen 1999, with working experience in primary health care and military medicine prior to career in forensic pathology and clinical forensic medicine since 2003. Head of research group working to improve methods for injury detection and better understanding of injury- and death mechanisms. Enjoys basketball as former player and now coach for junior athletes, and loves windsurfing and kitesurfing.

Abstract:
Pediatric Abusive Head Trauma – the evidence and controversies

From time to time pediatric ophthalmologists are called upon to examine infants with head injuries. The examination may have far-reaching consequences with medical and legal implications for the infant and caretakers. Presence of retinal injuries such as multilayered hemorrhages or retinoschisis is currently regarded a strong indicator of physical abuse by violent shaking. Diagnosing abuse however requires a broad multidisciplinary and forensic investigation, ruling out any possible differential diagnosis. An ongoing debate discusses the scientific evidence behind abusive head trauma. Some researchers call for more caution among physicians before implicating that violence must have occurred. They argue that birth trauma, spontaneous hypoxia, epilepsy and abnormal head growth conditions are overlooked as possible mechanisms behind intracranial and ocular injuries in infants. In Sweden and Norway, the discussion currently takes place both in the scientific literature and mass media, and most certainly in court proceedings. This presentation will provide an overview of the current debate on abusive head trauma and review some recent scientific contributions to the field.