X-Linked Retinitis Pigmentosa: Integrating Genetic Testing and Counseling to Improve Assessment and the Promise of Gene Therapy

1.25 CME
$0 FEE
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Provider Statement

This continuing medical education activity is provided by Vindico Medical Education

Support Statement

This activity is supported by an educational grant from Janssen Pharmaceuticals, Inc., administered by Janssen Global Services, LLC.

Activity Description

X-linked retinitis pigmentosa (XLRP) is a rare, inherited retinal disease and is the most common form of recessive retinitis pigmentosa (RP). XLRP is commonly caused by mutations in the RP guanosine triphosphate regulator (RPGR) gene, while its phenotype is characterized by early onset, severity, and rapid disease progression. Currently, no therapies are available for the management of XLRP, but novel strategies, including gene therapy, are undergoing clinical evaluation. These developments highlight the need for genetic testing, genetic counseling, and familiarity with ongoing clinical studies for the optimal management of patients with XLRP. In this CME activity, experts in the field review the prevalence, phenotypes, clinical presentation, and work-up for a patient presenting with a suspected RP; discuss the importance and applicability of genetic testing for patients with XLRP; as well as evaluate emerging gene therapies for their safety and efficacy in the treatment of patients with XLRP.

Target Audience

The intended audience for this activity is retina specialists and other health care professionals involved in the management of patients with X-linked retinitis pigmentosa.

Learning Objectives

Upon successful completion of this activity, participants should be better able to:

  • Review the prevalence, phenotypes, clinical presentation, and workup for patients presenting with suspected retinitis pigmentosa.
  • Recognize the importance and applicability of genetic testing and counseling for all patients with X-linked retinitis pigmentosa.
  • Evaluate emerging gene therapies, their mechanisms of action, efficacy, and safety in patients with X-linked retinitis pigmentosa.


Cagri G. Besirli, MD, PhD, FASRS
Associate Professor, Skillman Research Professor
Kellogg Eye Center, Ophthalmology and Visual Sciences
University of Michigan
Ann Arbor, MI

Alessandro Iannaccone, MD, MS, FARVO
Professor of Ophthalmology
Director, Center for Retinal Degenerations and
Ophthalmic Genetics Diseases
Director, Duke Visual Function Diagnostic Laboratory
Program Director, Duke Fellowship in Retinal Degenerations and Ophthalmic Genetics
Co-Medical Director, Retina Module,
Duke Eye Center Clinical Research Unit
Duke University School of Medicine
Duke Eye Center, Department of Ophthalmology
Durham, NC

Christine Nichols Kay, MD
Director of Retinal Genetics Service and Shareholder
Vitreoretinal Associates
Affiliate Assistant Professor of Ophthalmology
University of South Florida
Gainesville, FL


Ronald A. Codario, MD, EMBA, FACP, FNLA, RPVI, CHCP


Vindico Medical Education is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

Vindico Medical Education designates this enduring material for a maximum of 1.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to satisfy the Lifelong Learning and Self-Assessment requirements for the American Board of Ophthalmology’s Continuing Certification program. It is the CME activity provider’s responsibility to submit learner completion information to ACCME for the purpose of granting credit.

Upon successful completion, learners who opt-in by providing their ABO ID and DOB (MM/DD) will earn credits equivalent to the amount of CME credits claimed for the activity.

This enduring material is approved for 1 year from the date of original release, November 17, 2021, to November 16, 2022.

How to Participate in This Activity and Obtain CME Credit

To participate in this CME activity, you must read the objectives, answer the polling and pretest questions, view the content, and complete the posttest and evaluation. Provide only one (1) correct answer for each question. A satisfactory score is defined as answering 2 of 3 posttest questions correctly. Upon receipt of the completed materials, if a satisfactory score on the posttest is achieved, Vindico Medical Education will issue an AMA PRA Category 1 Credit(s)™ certificate.


Vindico Medical Education adheres to the Accreditation Council for Continuing Medical Education’s (ACCME) Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a continuing education activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Activity Chair and Faculty report the following relationship(s)

Cagri G. Besirli, MD, PhD, FASRS
Employee or Executive Role: iRenix Medical*
Royalties or Patent Beneficiary: iRenix Medical, ONL Therapeutics
Consultant: iRenix Medical, Janssen, MeiraGTx
Independent Research Contractor: 4DMT, Janssen, Novartis, Regeneron, Spark Therapeutics
Individual Stocks and Stock Options: iRenix Medical

*The contents of this activity are not related to the business lines or products of the employer.

Alessandro Iannaccone, MD, MS, FARVO
Royalties or Patent Beneficiary: Springer
Advisor: Alia Therapeutics, Blue Cone Monochromacy Families Foundation, Choroideremia Research Foundation, Foundation Fighting Blindness, Janssen
Consultant: Allievex, Arkin Holdings, Astellas, ClearView Healthcare Partners, Editas, Endogena, GLG Group, Guidepoint, Gyroscope, IQVIA, Janssen, Rhythm, Roivant, Teladoc Health
Independent Research Contractor: 4D Molecular Therapeutics, Acucela, AGTC, Allergan/AbbVie, FFB Clinical Research Consortium, MeiraGTx, ProQR

Christine Nichols Kay, MD
Advisor: Atsena
Consultant: AGTC, Astellas, Atsena, Guidepoint, Spark Therapeutics
Speaker for Ineligible Company: Spark Therapeutics
Independent Research Contractor: AGTC, Alkeus, Biogen/Nightstar, Foundation Fighting Blindness, Gyroscope, Iveric Bio, Kodiak, MeiraGTx/Janssen, ProQR, Regenxbio, Stargazer

Reviewer reports the following relationship(s)

Ronald A. Codario, MD, EMBA, FACP, FNLA, RPVI, CHCP
No relevant financial relationships to disclose.

Vindico Medical Education staff report the following relationship(s)

No relevant financial relationships to disclose.

Signed disclosures are on file at Vindico Medical Education, Office of Medical Affairs and Compliance.

Unlabeled and Investigational Usage

The audience is advised that this continuing medical education activity may contain references to unlabeled uses of US Food and Drug Administration (FDA)–approved products or to products not approved by the FDA for use in the United States. The faculty members have been made aware of their obligation to disclose such usage. All activity participants will be informed if any speakers/authors intend to discuss either non–FDA-approved or investigational use of products/devices.

Copyright Statement

Created and published by Vindico Medical Education, 6900 Grove Road, Building 100, Thorofare, NJ 08086-9447. Telephone: 856-994-9400; Fax: 856-384-6680. Printed in the USA. Copyright © 2021 Vindico Medical Education. All rights reserved. No part of this publication may be reproduced without written permission from the publisher. The material presented at or in any of Vindico Medical Education continuing medical education activities does not necessarily reflect the views and opinions of Vindico Medical Education. Neither Vindico Medical Education nor the faculty endorse or recommend any techniques, commercial products, or manufacturers. The faculty/authors may discuss the use of materials and/or products that have not yet been approved by the US Food and Drug Administration. All readers and continuing education participants should verify all information before treating patients or utilizing any product.

CME Questions?

Contact us at cme@vindicoCME.com