1 / 22

Checklist for LHON Carriers

Checklist for LHON Carriers. Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019. Who is an At-Risk LHON Carrier?. Can Women Become Affected?. Is There Any “Safe” Age?. Be Prepared. Onset happens quickly

machiko
Download Presentation

Checklist for LHON Carriers

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Checklist for LHON Carriers Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019

  2. Who is an At-Risk LHON Carrier?

  3. Can Women Become Affected?

  4. Is There Any “Safe” Age?

  5. Be Prepared • Onset happens quickly • There are many issues to address, and obstacles to overcome, all at once and it’s overwhelming • Preparation makes onset less traumatic • Take the following actions NOW if you or a loved one carry an LHON mutation!

  6. Find One or More LHON Doctors • Local Neuro-Ophthalmologist or Ophthalmologist • LHON Expert

  7. Local (Neuro-)Ophthalmologist • NANOSweb.org

  8. LHON Expert Dr. Nancy Newman • Dr. Alfredo Sadun Dr. RustumKaranjia

  9. Baseline Exam • Optical Coherence Tomography (OCT) Visual Field Test (VFT)

  10. Store Your Medical Records • Maintain your VFT & OCT in a paper or electronic file • You might change doctors • Your doctor might move or retire

  11. If You’ve Had Genetic Testing • Store results with your other LHON medical records • If you don’t have a copy of the test results, get one: • Contact the doctor who ordered the test • Request a copy of the report

  12. Locate Counseling Services • Genetic Counselor • NSGC.org • Mental Health Therapist

  13. Know Your LHON Mutation • What? • Usually it’s 11778, 14484, or 3460 • Infrequently it’s a rare pathogenic mutation • Why? • It determines eligibility for a clinical trial and/or treatment • It gives some sense of potential outcome • How? • Get your own testing done • Ask a maternal relative their mutation

  14. If You Haven’t Had Genetic Testing • Develop a plan for how you’ll get it done quickly if needed

  15. Consider Targeted Mutation Analysis aka Known Familial Variant Testing • What? • A test just for your family’s specific mutation • Why? • It can save time and money • How? • Obtain a copy of a maternal relative’s genetic test results and store with yours.

  16. Evaluate Lab Options • Cost • Your insurance • The lab’s Financial Assistance options • Time • Turnaround times vary widely • How is the Sample Obtained? • FedEx’d kit for buccal swab • Blood draw

  17. Identify Who Will Order the Test • Local Neuro-ophthalmologist/Ophthalmologist • LHON Expert • Primary Care Physician • Genetic Counselor

  18. Clinical Trials • How to find a Clinical Trial: • www.ClinicalTrials.gov • Patient Advocacy organizations (LHON.org, etc.) • Understand Inclusion/Exclusion Criteria • Mutation • Time since onset • Age • Etc.

  19. Be Aware of Environmental Factors • Don’t smoke! • Short list at: www.LHON.org/lhon101 • Detailed article:Toxic medications in Leber’s hereditary optic neuropathy

  20. Do You Suspect Onset? • Is vision suddenly blurrier; cloudier? • Is there a blurry spot in one or both eyes that doesn’t go away?

  21. Know How to Evaluate Onset • Evaluate each eye individually • Look straight ahead with both eyes • Close one eye then look straight ahead • Close the other eye then look straight ahead • Is there a blurry spot in one or both eyes that doesn’t go away? • This blurry spot is called a scotoma. It will gradually increase in size. • A scotoma is different from a floater, which looks like a speck of dust or a cobweb that moves over the field of vision and isn’t stationary.

  22. Checklist for LHON Carriers Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019

More Related