Table 1.

Molecular Genetic Profile of our DOA Cohort

Table 2.

Distribution of RNFL Indices for Our OPA1 Cohort

Table 3.

RNFL Thickness Data for OPA1 Patients and Normal Controls

Table 4.

Comparison of RNFL Thickness Between Pure DOA and DOA + Subgroups

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CME

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

Authors: Patrick Yu-Wai-Man, MRCOphth; Maura Bailie; Alaa Atawan; Patrick F. Chinnery, PhD, FRCPath; Philip G. Griffiths, FRCOphth
CME Released: 3/4/2011
THIS ACTIVITY HAS EXPIRED FOR CREDIT
Valid for credit through: 3/4/2012

Start Activity

Target Audience and Goal Statement

This activity is intended for primary care clinicians, ophthalmologists, and other specialists who care for patients with DOA.

The goal of this activity is to review features of DOA and RGC loss in patients with the pure and syndromal forms of DOA.

Upon completion of this activity, participants will be able to:

Describe the clinical features of DOA
Identify extraocular features associated with DOA
Identify the peripapillary retinal nerve fibre layer (RNFL) quadrants most affected in patients with OPA1 mutations
Differentiate the pattern of RNFL thinning between patients with pure DOA and DOA+ phenotypes

Disclosures

As an organization accredited by the ACCME, Medscape, LLC, requires everyone who is in a position to control the content of an education activity to disclose all relevant financial relationships with any commercial interest. The ACCME defines "relevant financial relationships" as financial relationships in any amount, occurring within the past 12 months, including financial relationships of a spouse or life partner, that could create a conflict of interest.

Medscape, LLC, encourages Authors to identify investigational products or off-label uses of products regulated by the US Food and Drug Administration, at first mention and where appropriate in the content.

Author(s)

Patrick Yu-Wai-Man, MRCOphth

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, United Kingdom; Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; Institute of Human Genetics, Newcastle University, United Kingdom

Disclosures

Disclosure: Patrick Yu-Wai-Man, MRCOphth, has disclosed no relevant financial relationships.

Maura Bailie

Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom

Disclosures

Disclosure: Maura Bailie has disclosed no relevant financial relationships.

Alaa Atawan

Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom

Disclosures

Disclosure: Alaa Atawan has disclosed no relevant financial relationships.

Patrick F. Chinnery, PhD, FRCPath

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, United Kingdom; Institute of Human Genetics, Newcastle University, United Kingdom

Disclosures

Disclosure: Patrick F. Chinnery, PhD, FRCPath, has disclosed no relevant financial relationships.

Philip G. Griffiths, FRCOphth

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, United Kingdom; Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom

Disclosures

Disclosure: Philip G. Griffiths, FRCOphth, has disclosed no relevant financial relationships.

Editor(s)

A.J. Lotery, MD, FRCOphth

Editor-in-Chief, Eye

Disclosures

Disclosure: A.J. Lotery, MD, FRCOphth, has disclosed the following relevant financial relationships:
Received grants for clinical research from: Novartis Pharmaceuticals Corporation
Served as an advisor or consultant for: Alcon Laboratories, Inc.
Served as a speaker or member of a speakers bureau for: Bausch & Lomb Inc.

CME Author(s)

Désirée Lie, MD, MSEd

Clinical Professor; Director of Research and Faculty Development, Department of Family Medicine, University of California, Irvine at Orange

Disclosures

Disclosure: Désirée Lie, MD, MSEd, has disclosed the following relevant financial relationship:
Served as a nonproduct speaker for: "Topics in Health" for Merck Speaker Services

CME Reviewer(s)

Nafeez Zawahir, MD

CME Clinical Director, Medscape, LLC

Disclosures

Disclosure: Nafeez Zawahir, MD, has disclosed no relevant financial relationships.

Sarah Fleischman

CME Program Manager, Medscape, LLC

Disclosures

Disclosure: Sarah Fleischman has disclosed no relevant financial relationships.

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For Physicians

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Medscape, LLC designates this Journal-based CME 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.

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Summary

What Was Known Before

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), and in about 20% of affected carriers, additional neuromuscular features develop in addition to optic nerve dysfunction (DOA +). Previous studies have shown thinning of the peripapillary retinal nerve fibre layer (RNFL) among patients with pure DOA, indicating marked loss of retinal ganglion cell axons, especially along the temporal papillomacular bundle.

What This Study Adds

The peripapillary RNFL is significantly thinner among OPA1 carriers with DOA + phenotypes compared with those who only have isolated optic nerve involvement. This finding is consistent with the worse visual prognosis associated with the more severe, syndromal forms of DOA.

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Page 5 of 5

CME Information

References

References

Acknowledgments

PYWM is a Medical Research Council (MRC, UK) Clinical Research Fellow in Neuro-Ophthalmology and PFC is a Wellcome Trust Senior Fellow in Clinical Science. PFC also receives funding from the Parkinson's Disease Society (UK), the MRC Translational Muscle Centre, and the UK NIHR Biomedical Research Centre in Ageing and Age Related Disease.

Reprint Address

Patrick Yu-Wai-Man, MRCOphth, Institute of Human Genetics, Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK Tel: + 44 191 241 8611; Fax: + 44 191 241 8666. E-mail: [email protected]

Table 1.

Table 2.

Table 3.

Table 4.

CME

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

Target Audience and Goal Statement

Disclosures

Author(s)

Patrick Yu-Wai-Man, MRCOphth

Maura Bailie

Alaa Atawan

Patrick F. Chinnery, PhD, FRCPath

Philip G. Griffiths, FRCOphth

Editor(s)

A.J. Lotery, MD, FRCOphth

CME Author(s)

Désirée Lie, MD, MSEd

CME Reviewer(s)

Nafeez Zawahir, MD

Sarah Fleischman

Accreditation Statements

For Physicians

Instructions for Participation and Credit

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations: Summary

Summary

What Was Known Before

What This Study Adds

Table of Contents

Acknowledgments

Reprint Address

Table 1.

Table 2.

Table 3.

Table 4.

References

Faculty and Disclosures

Author(s)

Patrick Yu-Wai-Man, MRCOphth

Maura Bailie

Alaa Atawan

Patrick F. Chinnery, PhD, FRCPath

Philip G. Griffiths, FRCOphth

Editor(s)

A.J. Lotery, MD, FRCOphth

CME Author(s)

Désirée Lie, MD, MSEd

CME Reviewer(s)

Nafeez Zawahir, MD

Sarah Fleischman

CME

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

Target Audience and Goal Statement

Disclosures

Author(s)

Patrick Yu-Wai-Man, MRCOphth

Maura Bailie

Alaa Atawan

Patrick F. Chinnery, PhD, FRCPath

Philip G. Griffiths, FRCOphth

Editor(s)

A.J. Lotery, MD, FRCOphth

CME Author(s)

Désirée Lie, MD, MSEd

CME Reviewer(s)

Nafeez Zawahir, MD

Sarah Fleischman

Accreditation Statements

For Physicians

Instructions for Participation and Credit

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations: Summary

Summary

What Was Known Before

What This Study Adds

Table of Contents

Acknowledgments

Reprint Address