Bellingrath JS, Ochakovski GA, Seitz IP, et al. High symmetry of visual acuity and visual fields in RPGR-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2017;58:4457-4466.
Bravo-Gil N, González-del Pozo M, Martín-Sánchez M, et al. Unravelling the genetic basis of simplex retinitis pigmentosa cases. Sci Rep. 2017;7:41937.
Cehajic Kapetanovic J, Patrício MI, MacLaren RE. Progress in the development of novel therapies for choroideremia. Expert Rev Ophthalmol. 2019;14:277-285.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med. 2020;26:354-359.
ClinicalTrials.gov. Gene therapy for X-linked retinitis pigmentosa (XLRP) retinitis pigmentosa GTPase regulator (RPGR). https://www.clinicaltrials.gov/ct2/show/NCT03252847. Accessed April 22, 2020.
ClinicalTrials.gov. Safety and efficacy of rAAV2tYF-GRK1-RPGR in subjects with X-linked retinitis pigmentosa caused by RPGR mutations. https://clinicaltrials.gov/ct2/show/NCT03316560. Accessed April 22, 2020.
Coussa RG, Traboulsi EI. Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet. 2012;33:57-65.
Duncan JL, Pierce EA, Laster AM, et al. Inherited retinal degenerations: current landscape and knowledge gaps. Transl Vis Sci Technol. 2018;7:6.
Ferrari S, Di Iorio E, Barbaro V, et al. Retinitis pigmentosa: genes and disease mechanisms. Current Genomics. 2011;12:238-249.
Jiman OA, Taylor RL, Lenassi E, et al. Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. Eur J Hum Genet. 2020;28:576-586.
Kawasaki A, Crippa SV, Kardon R, et al. Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. Invest Ophthalmol Vis Sci. 2012;53:5562-5569.
Klein M, Birch DG. Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST). Doc Ophthalmol. 2009;119:217-224.
Lam B. Choroideremia and LHON gene therapy. Presented at: 6th Annual Retinal Cell and Gene Therapy Innovation Summit; April 26, 2019; Vancouver, British Columbia.
Lam B. Treatments and clinical trials in inherited retinal degenerations. Presented at: Angiogenesis 2019; February 9, 2019; Miami, FL. Session VI.
MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet. 2014;383:1129-1137.
Martinez-Fernandez De La Camara C, Nanda A, Salvetti AP, et al. Gene therapy for the treatment of X-linked retinitis pigmentosa. Expert Opin Orphan Drugs. 2018;6:167-177.
Mitsios A, Dubis AM, Moosajee M. Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Ther Adv Ophthalmol. 2018;10:2515841418817490.
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Skorczyk-Werner A, Wawrocka A, Kochalska N, et al. Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment. Orphanet J Rare Dis. 2018;13:221.
Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157-186.
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Faculty

Mark Pennesi, MD, PhD

Associate Professor of Ophthalmology
Kenneth C. Swan Endowed Professor
Division Chief, Ophthalmic Genetics
Casey Eye Institute
Oregon Health & Science University
Portland, Oregon, United States

Disclosures

Disclosure: Mark Pennesi, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Allegran/Editas; Astellas Pharmaceuticals; Biogen Horama; Eyevensys; IVERIC; Nacuity Pharmaceuticals; Nayan; Ocugen; Sparks Therapeutics
Received grants for clinical research from: Nacuity Pharmaceuticals; Ocugen

Byron L. Lam, MD

Robert Z. and Nancy J. Greene Chair in Ophthalmology
Professor of Ophthalmology
University of Miami Miller School of Medicine
Miami, Florida, United States

Disclosures

Disclosure: Byron L. Lam, MD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Allergan; Nightstar; ProQR
Received grants for clinical research from: AGTC; Allergan; Biogen; Editas; Evision; FFB; Pixium; ProQR; Regenera

Dominik Fischer, MD, PhD

Professor of Ophthalmology
Institute for Ophthalmic Research
University of Tübingen
Tübingen, Germany

Disclosures

Disclosure: Dominik Fischer, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Adelphi Values; Casebia; Covance; EyeServ; Hoffman Eitle; Horoma; Nightstar; Janssen; Roche; Sanofi; STZeyetrial; Topivert
Received grants for clinical research from: Bayer; Biogen; Casebia; Nightstar; Novartis

Editors

Pakinam Aboulsaoud, PharmD

Medical Education Director, Medscape, LLC

Disclosures

Disclosure: Pakinam Aboulsaoud, PharmD, has disclosed no relevant financial relationships.

Anita A. Galdieri, PharmD, RPh

Senior Scientific Content Manager, Medscape, LLC

Disclosures

Disclosure: Anita A. Galdieri, PharmD, RPh, has disclosed no relevant financial relationships.

CME Reviewer

Robert Morris, PharmD

Associate Director
Accreditation and Compliance, Medscape, LLC

Disclosures

Disclosure: Robert Morris, PharmD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: ViiV Healthcare
Owns stock, stock options, or bonds from: GlaxoSmithKline

Medscape, LLC staff have disclosed that they have no relevant financial relationships.

Peer Reviewer

This activity has been peer reviewed and the reviewer has disclosed the following relevant financial relationships: Served as an advisor or consultant for: Apellis; DeepMind Technologies Inc; Roche; Novartis Owns stock, stock options, or bonds from: Big Picture Medical Other: Speaker fees: Allergan; Bayer; Heidelberg Engineering; Topcon

CME

Gene Therapy: New Hope for Patients With CHM and XLRP

Authors: Mark Pennesi, MD, PhD; Byron L. Lam, MD; Dominik Fischer, MD, PhD
CME Released: 5/14/2020
THIS ACTIVITY HAS EXPIRED
Valid for credit through: 5/14/2021

Start Activity

Target Audience and Goal Statement

This activity is intended for ophthalmologists, pediatricians, and primary care physicians.

The goal of this activity is to increase the detection and diagnosis rates of patients with inherited retinal degenerations (IRDs) and keep clinicians abreast of the latest data of evolving gene therapies.

Upon completion of this activity, participants will:

Have increased knowledge regarding the
- Signs and symptoms of IRDs on first presentation
- Diagnostic modalities for IRDs
- Clinical trial data for emerging treatment options for IRDs

Disclosures

Faculty

Mark Pennesi, MD, PhD

Associate Professor of Ophthalmology
Kenneth C. Swan Endowed Professor
Division Chief, Ophthalmic Genetics
Casey Eye Institute
Oregon Health & Science University
Portland, Oregon, United States

Disclosures

Disclosure: Mark Pennesi, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Allegran/Editas; Astellas Pharmaceuticals; Biogen Horama; Eyevensys; IVERIC; Nacuity Pharmaceuticals; Nayan; Ocugen; Sparks Therapeutics
Received grants for clinical research from: Nacuity Pharmaceuticals; Ocugen

Byron L. Lam, MD

Robert Z. and Nancy J. Greene Chair in Ophthalmology
Professor of Ophthalmology
University of Miami Miller School of Medicine
Miami, Florida, United States

Disclosures

Disclosure: Byron L. Lam, MD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Allergan; Nightstar; ProQR
Received grants for clinical research from: AGTC; Allergan; Biogen; Editas; Evision; FFB; Pixium; ProQR; Regenera

Dominik Fischer, MD, PhD

Professor of Ophthalmology
Institute for Ophthalmic Research
University of Tübingen
Tübingen, Germany

Disclosures

Disclosure: Dominik Fischer, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Adelphi Values; Casebia; Covance; EyeServ; Hoffman Eitle; Horoma; Nightstar; Janssen; Roche; Sanofi; STZeyetrial; Topivert
Received grants for clinical research from: Bayer; Biogen; Casebia; Nightstar; Novartis

Editors

Pakinam Aboulsaoud, PharmD

Medical Education Director, Medscape, LLC

Disclosures

Disclosure: Pakinam Aboulsaoud, PharmD, has disclosed no relevant financial relationships.

Anita A. Galdieri, PharmD, RPh

Senior Scientific Content Manager, Medscape, LLC

Disclosures

Disclosure: Anita A. Galdieri, PharmD, RPh, has disclosed no relevant financial relationships.

CME Reviewer

Robert Morris, PharmD

Associate Director
Accreditation and Compliance, Medscape, LLC

Disclosures

Disclosure: Robert Morris, PharmD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: ViiV Healthcare
Owns stock, stock options, or bonds from: GlaxoSmithKline

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From Medscape Education Ophthalmology

CME

Gene Therapy: New Hope for Patients With CHM and XLRP

Authors: Mark Pennesi, MD, PhD; Byron L. Lam, MD; Dominik Fischer, MD, PhDFaculty and Disclosures

THIS ACTIVITY HAS EXPIRED

CME Released: 5/14/2020

Valid for credit through: 5/14/2021

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Contents of This CME Activity

All sections of this activity are required for credit.

Challenges in Detection and Diagnosis of Inherited Retinal Degenerations

Dr Mark Pennesi reviews diagnosis of IRDs, including differentiation of retinitis pigmentosa (RP).
Mark Pennesi, MD, PhD

Choroideremia

Dr Byron Lam discusses the clinical findings and treatment of choroideremia.
Byron L. Lam, MD

X-Linked Retinitis Pigmentosa (XLRP)

Dr Dominik Fischer discusses emerging therapy for X-linked retinitis pigmentosa (XLRP).
Dominik Fischer, MD, PhD

Pre-assessment question

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The educational activity presented above may involve simulated, case-based scenarios. The patients depicted in these scenarios are fictitious and no association with any actual patient, whether living or deceased, is intended or should be inferred. The material presented here does not necessarily reflect the views of Medscape, LLC, or any individuals or commercial entities that support companies that support educational programming on medscape.org. These materials may include discussion of therapeutic products that have not been approved by the US Food and Drug Administration, off-label uses of approved products, or data that were presented in abstract form. These data should be considered preliminary until published in a peer-reviewed journal. Readers should verify all information and data before treating patients or employing any therapies described in this or any educational activity. A qualified healthcare professional should be consulted before using any therapeutic product discussed herein.

References

Faculty and Disclosures

Faculty

Mark Pennesi, MD, PhD

Byron L. Lam, MD

Dominik Fischer, MD, PhD

Editors

Pakinam Aboulsaoud, PharmD

Anita A. Galdieri, PharmD, RPh

CME Reviewer

Robert Morris, PharmD

CME

Gene Therapy: New Hope for Patients With CHM and XLRP

Target Audience and Goal Statement

Disclosures

Faculty

Mark Pennesi, MD, PhD

Byron L. Lam, MD

Dominik Fischer, MD, PhD

Editors

Pakinam Aboulsaoud, PharmD

Anita A. Galdieri, PharmD, RPh

CME Reviewer

Robert Morris, PharmD

Accreditation Statements

For Physicians

Instructions for Participation and Credit

Gene Therapy: New Hope for Patients With CHM and XLRP

Contents of This CME Activity

Challenges in Detection and Diagnosis of Inherited Retinal Degenerations

Choroideremia

X-Linked Retinitis Pigmentosa (XLRP)

Pre-assessment question