OasisLMS

Date of Release: March 23, 2026

Expiration Date: March 31, 2028

Credits offered: AMA PRA Category 1 Credits™, ASCLS P.A.C.E.®, NSGC (Pending)

Estimate time of completion: 4.5 hours

Medical Genetics in Ophthalmology: Through the Lens of Genetics-Informed Therapies

Description

Ophthalmic genetics is a well-established field for management, diagnosis, and counseling of rare genetic eye disorders and genetic systemic disorders with eye manifestations in children and adults. Multiple clinical models and training pathways are available for medical geneticists, ophthalmologists and genetic counselors interested in this career specialty. This workshop aims to provide a description of the clinical landscape of ophthalmic genetics, unique diagnostic and therapeutic challenges, including highlighting the growing field of gene-targeted and gene-agnostic therapies. Participants will gain insight into training, clinical phenotyping, including advanced multimodal imaging, genetic testing, and gene therapy considerations, as well as the opportunity to interact with leaders in ophthalmic genetics clinical and translational research. We will provide an open forum for clinical geneticists and ophthalmologists to present cases which remain unsolved or represent an example of the power of ocular genetics.

Target Audience

ACMG members, medical geneticists, laboratory geneticists, genetic counselors, ophthalmologists with experience in genetics practice, and ophthalmologists with interest in genetics training.

Learning Objectives

At the conclusion of this session, participants should be able to:

• Define key ophthalmic terms used in genetic diagnosis.
• Distinguish between common congenital ocular anomalies and their genetic implications.
• Recognize how precise terminology improves communication between medical geneticists and ophthalmologists.
• Describe current training pathways integrating genetics and ophthalmology.
• Compare educational approaches for ophthalmologists, medical geneticists, and genetic counselors.
• Identify strategies to develop genetics-focused training within ophthalmology programs.
• Explain the essential components of a multidisciplinary ophthalmic genetics clinic.
• Differentiate between genetic testing modalities used in ocular disease diagnosis.
• Evaluate approaches for selecting appropriate clinical, research, or sponsored testing.
• Summarize current and emerging gene therapy options for ocular genetic disease.
• Discuss gene-directed and gene-agnostic therapeutic approaches.
• Examine the patient experience and ethical considerations surrounding ocular gene therapy.

Presentations

Welcome and Specialist Language Barriers: What Is the Eye Doctor Saying?
Elias I. Traboulsi, MD, MEd

Ptosis or Blepharophimosis, Anophthalmia vs. Microphthalmia: Why It Matters?
Anne L. Slavotinek, MBBS, PhD, FACMG

Medical Genetics and Ophthalmology: More Than Meets the Eye
David Valle, MD, FACMG

Panel Discussion – Q&A [Session 1 - The Importance of Proper Eye Terminology in Genetic Diagnosis]

Ophthalmic Genetics Specialty Training – Ophthalmologists, Geneticists, or Both?
Alex V. Levin, MD, MS

Training Ophthalmologists and Medical Geneticists – Dual Perspectives
Brian P. Brooks, MD, PhD

Specialty Training in Genetic Counseling – Building a Concentration
Celeste S. Wyman, ScM, CGC

Panel Discussion – Q&A [Session 2 — Pathways for Genetics Training and Education in Ophthalmology] 

How to Build a Multidisciplinary Clinic
Lev Prasov, MD

Genetic Testing – Sponsored, Research, or Clinical?
Kristy Lee, MS

Genetic Testing – One Gene, Panel, Exome, Genome, or Beyond?
Gavin Arno

Panel Discussion – Q&A [Session 3-  The Role of Multidisciplinary Clinics in the Gene Therapy Era] 

Ocular Gene Therapy Landscape: Past and Future
Tomas S. Aleman, MD

Gene-Agnostic Therapies for Inherited Retinal Degenerations
Peter Campochiaro, MD

Patient Perspectives on Gene Therapy
Amy Laster, BS, PhD

Panel Discussion – Concluding Remarks

Joint Closing – The Evolution of Gene Therapy: Milestones, Challenges, and Future Directions
Eric Pierce, MD, PhD

Accredited Continuing Education Information:

CME AMA PRA Category 1 Credits^TM, ASCLS P.A.C.E.®, NSGC (Pending)

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 4.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

ASCLS P.A.C.E.® CEU's 

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program.

ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider (50-11878). This course is registered with CEBroker #20-1332029. ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.® (857360). This activity has been approved for 0.4 P.A.C.E.® CEU's.

National Society of Genetic Counselors (NSGC):

This event has been submitted to the National Society of Genetic Counselors (NSGC) for approval of Category 1 CEUs. The American Board of Genetic Counseling (ABGC) accepts CEUs approved by NSGC for purposes of recertification. Approval for the requested CEUs and contact hours is currently pending.

Claiming your Educational Credits

This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

All of the relevant financial relationships listed for these individuals have been mitigated.

Course Faculty – Financial Disclosures

• Alex V. Levin, MD, MS
  CE Presenter, Moderator
  Consultant: Mitsubishi
• Tomas S. Aleman, MD
  CE Presenter
  Grant/Research Support: Editas Medicine, Inc.; Atsena Therapeutics, Inc.; Opus Genetics, Inc.; Spark Therapeutics–Genentech
• Gavin Arno
  CE Presenter
  Consultant: SpliceBio
• Brian P. Brooks, MD, PhD
  CE Presenter
  No Relevant Financial Relationships
• Peter Campochiaro, MD
  CE Presenter
  Owner/Founder: Cove (content limited to basic science)
  Grant/Research Support: Cove; RegenxBio; Genentech; Ocular Therapeutics; Sanofi
  Consultant: Cove; Sanofi; Neuvasq; Perfuse
  Scientific/Medical Advisor: Genentech
• Amy Laster, BS, PhD
  CE Presenter
  No Relevant Financial Relationships
• Kristy Lee, MS
  CE Presenter
  No Relevant Financial Relationships
• Lev Prasov, MD
  CE Presenter
  Stock/Stock Options: Regeneron (REGN)
• Eric Pierce, MD, PhD
  CE Presenter
  Owner/Founder: Lyora Therapeutics (content limited to basic science)
  Scientific/Medical Advisor: Sparing Vision
• Anne L. Slavotinek, MBBS, PhD, FACMG
  CE Presenter
  No Relevant Financial Relationships
• Elias I. Traboulsi, MD, MEd
  CE Presenter
  Data Safety and Monitoring Board Member: Sparing Vision
• David Valle, MD, FACMG
  CE Presenter
  Consultant: Maze Therapeutics
• Celeste S. Wyman, ScM, CGC
  CE Presenter
  No Relevant Financial Relationships

2026 ACMG Program Committee – Financial Disclosures

• Ross A. Rowsey, PhD, FACMG
  Chair – Program Committee
  No Relevant Financial Relationship
• Nathan D. Kopp, PhD
  Vice Chair – Program Committee
  No Relevant Financial Relationship
• Jodi D. Hoffman, MD, FACMG
  Immediate Past Chair – Program Committee
  No Relevant Financial Relationship
• Shweta Dhar, MD, MS, FACMG
  VP Education – Program Committee
  No Relevant Financial Relationship
• Mira Irons, MD, FACMG
  ACMG President – Program Committee
  No Relevant Financial Relationship
• Kevin M. Bowling, PhD, MS
  Member – Program Committee
  No Relevant Financial Relationship
• Lauren B. Carter, MD, FACMG
  Education and PD Committee Liaison
  No Relevant Financial Relationship
• Matthew Deardorff, MD, PhD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Rajarshi Ghosh, PhD, MS, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Anna C. Hurst, MD, MS, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Jaeseung Kim, PhD, MS
  Member – Program Committee
  No Relevant Financial Relationship
• Alaa Koleilat, PhD, MS, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Murugu Manickam, MD
  Member – Program Committee
  No Relevant Financial Relationship
• Shivarajan Manickavasagam Amudhavalli, MBBS, MD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Teri A. Manolio, MD, PhD
  Member – Program Committee
  No Relevant Financial Relationship
• Andres A. Morales Corado, MD, FACMG
  Therapeutics Committee Liaison
  Research Grant/Contract: Phoenix-Nest, Inc.
• Anna Nagy, MGC
  Member – Program Committee
  No Relevant Financial Relationship
• Chanika Phornphutkul, MD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Andrea J. Schelhaas, MS
  Former Education and PD Committee Liaison
  Consultant: BioMarin Pharmaceutical Inc.; Tyra Biosciences
• Panieh Terraf, PhD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Katarzyna Thompson, PhD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Neeta L. Vora, MD, FACMG
  Member – Program Committee
  No Relevant Financial Relationship
• Jeffrey N. Weitzel, MD, FACMG
  Member – Program Committee
  Consultant: Cancer IQ; Natera; MyOme
• Xinming Zhuo, PhD
  Trainee Member – Program Committee
  Stock: FUTU Holdings Limited; GE Healthcare; Gilead Sciences, Inc.
• Jane Radford, MHA, CHCP
  Staff
  No Relevant Financial Relationship