Program Description: 

The human eye formation requires extraordinary coordination of various developmental processes. The conservation of developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. Our laboratory studies a variety of human ocular disorders including anophthalmia/microphthalmia/coloboma, Axenfeld-Rieger syndrome, Peters Plus syndrome, various forms of anterior segment dysgenesis as well as congenital and juvenile glaucoma and cataracts. We actively utilize whole exome and whole genome sequencing to identify causative genes, as well as animal studies for functional characterization of the identified variants. The talk will present some examples of these studies as well as value of genetic tests for affected families and their health care providers


Advanced in clinical and bench research in ophthalmology has produced multiple new treatment options for a variety of ocular diseases.  New technology, including the fast growing field of ocular imaging, is been used to further understand eye anatomy and pathology.  Progress in the field of ocular surgery has introduced new techniques and better outcomes.  The clinical and research environment is complex; issues related to ethics, quality improvement and new technology affect all eye care providers. The Eye Institute has, as one of its mission, the goal of being at the forefront of research, clinical care and education.  Our goal is to educate the academic and community eye care providers, residents, researchers and medical students on the best and newest clinical and surgical treatments, cutting edge research and important non-clinical topics available in the field.

Accreditation Statement:
The Medical College of Wisconsin is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
AMA Credit Designation:
The Medical College of Wisconsin designates this Live activity for a maximum of 1.00 AMA PRA Category 1 Credit(s) ™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Hours of Participation for Allied Health Professionals:
The Medical College of Wisconsin designates this activity for up to 1.00 hours of participation for continuing education for allied health professionals
Target audience: 
  • Community eye care professionals
  • Full time faculty
  • Residents
  • Fellow ophthalmologists
  • Optometrists
  • Ophthalmic photographers
Learning objectives: 

At the conclusion of this activity, I will be able to:

  1. To provide information about several human ocular syndromes and their causative genetic factors
  2. To present current methods of causative gene identification (whole exome/genome sequencing, functional studies
  3. To describe benefits of genetic tests to families and their health care providers
Faculty & credentials: 
Activity Directors:
William J. Wirostko, MD

Elena Semina, PhD
Chair, Division of Developmental Biology
Medical College of Wisconsin



All persons in control of content has no relevant financial relationships to disclose with the exception of the following persons;

In accordance with the ACCME®  Standards for Commercial Support Number 6, all in control of content disclosed any relevant financial relationships. These relationships were reviewed via the MCW conflict of interest resolution process and resolved


Kelli Torosian
Phone number: 
+1 (414) 955-7875
Session date: 
04/06/2016 - 7:00am to 8:00am CDT
Eye Institute
925 N. 87th St.
Lower Level Conference Room
Milwaukee, WI 53226
United States
  • 1.00 AMA PRA Category 1 Credit(s)™
    AMA PRA Category 1 Credit(s)™
  • 1.00 Hours of Participation
    Hours of Participation credit.

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