Jefferson Doyle, MD, PhD, MHS
Pediatric Ophthalmology
Highlights
Johns Hopkins Affiliations:
- Johns Hopkins School of Medicine Faculty
About Jefferson Doyle
Primary Academic Title
Assistant Professor of Ophthalmology
Background
Jefferson Doyle, M.D., Ph.D., M.H.S. specializes in pediatric ophthalmology and genetic eye diseases and is the recipient of the 2023 Andreas C. Dracopoulos & Daniel Finkelstein, M.D. Rising Professorship in Ophthalmology. His main focus is pediatric and juvenile forms of cataracts, glaucoma, anterior segment dysgenesis, and ectopia lentis. His genetics interests include Marfan syndrome and related connective tissue disorders, complex inherited forms of strabismus in both children and adults (e.g. CFEOM, Duane syndrome), and pediatric retinal dystrophies.
Dr. Doyle has published extensively on a number of genetic disorders over the past decade, holds several patents for novel therapeutic approaches to treat them, and has given many national and international talks about them. Dr. Doyle's main research focus is understanding the genetic causes and molecular mechanisms driving genetic diseases, and utilizing that knowledge to develop new therapeutic strategies for them.
Over the past decade, he has played a significant role in advancing our understanding of Marfan syndrome and related connective tissue disorders. His work and that of collaborators has led to the discovery of the genetic causes of Shprintzen-Goldberg syndrome and Loeys-Dietz like syndrome. His work has also led to a much better understanding of the molecular mechanisms driving Marfan syndrome, and he holds two patents for novel therapeutic strategies to treat it.
Part of his current work focuses on the identification of genes that protect people from developing a number of genetic disorders, and leveraging that knowledge to develop new therapies for those diseases. He also has an interest in pediatric myopia, and has ongoing pre-clinical studies seeking to understand the mechanisms that may drive it and the development of novel therapeutic strategies to treat it.
Recent News Articles and Media Coverage
A Center for Genetic Eye Disease, Wilmer Insider (Oct. 2021)
Additional Academic Titles
Assistant Professor of Genetic Medicine
Selected Publications
*Denotes equal contribution of authors
Habashi J.,* Doyle J.J.,* Holm T., Aziz H., Schoenhoff F., et al. Angiotensin II type 2 receptor signalling attenuates aortic aneurysm in mice through ERK antagonism. Science 2011; 332:361-5.
Doyle J.J.,* Doyle A.J.,* Wilson N., Habashi J.P., et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan Syndrome. E-life 2015; 4. Piie08648.
Doyle A.J.,* Doyle J.J.,* Bessling S.L., Maragh S., et al. Mutations in the TGFβ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics 2012; 44:1249-54.
Holm T.,* Habashi J.,* Doyle J.J.,* Bedja D., Chen Y., et al. Noncanonical TGFβ signalling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 2011; 332:358-61.
Lindsay M.E., Schepers D., Bolar N.A., Doyle J.J., et al. Loss of function mutations in TGFβ2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics 2012; 44:922-7.
Honors
- 2009 Charles Epstein Trainee Research Award, American Society of Human Genetics
- 2010 Charles Epstein Trainee Research Award Finalist, American Society of Human Genetics
- 2011 Michael A. Shanoff Award, Johns Hopkins University School of Medicine
- 2016 W. Richard Green Housestaff Teaching Award
- 2017 Wilmer Research Association Research Award
- Victor A. McKusick Fellowship, National Marfan Foundation, 7/1/09
Memberships
- American Society of Human Genetics
- Association for Research in Vision and Ophthalmology
- American Association for Pediatric Ophthalmology and Strabismus
Additional Training
- Pre-Clinical Medicine (College): Oxford University, Oxford, UK
- Masters in Public Health (MHS): Johns Hopkins University School of Public Health, Baltimore, MD
- PhD: Genetics and Molecular Medicine: Johns Hopkins University School of Medicine, Baltimore, MD
- Assistant Chief of Service: Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore,
Locations
- The Johns Hopkins Hospital
- 1800 Orleans Street, Maumenee Lobby, Baltimore, MD 21287
- phone: 410-955-5650
- fax: 443-769-1282
- The Johns Hopkins Hospital
- 1800 Orleans Street, Wilmer B1-70, Baltimore, MD 21287
- phone: 410-955-5080
- fax: 443-769-1282
Expertise
Education
Boston Children's Hospital
Fellowship, Pediatric Ophthalmology, 2018Johns Hopkins University School of Medicine
Residency, Ophthalmology, 2017Johns Hopkins University School of Medicine
Graduate School, PhD, 2015Cambridge School of Clinical Medicine
Medical Education, MBBChir, 2005Johns Hopkins Bloomberg School of Public Health
Graduate School, MHS, 2004Board Certifications
Ophthalmology
American Board of Ophthalmology, 2020Insurance
- Aetna
- CareFirst
- Cigna
- First Health
- Geisinger Health Plan
- HealthSmart/Accel
- Humana
- Johns Hopkins Health Plans
- MultiPlan
- Pennsylvania's Preferred Health Networks (PPHN)
- Point Comfort Underwriters
- Private Healthcare Systems (PHCS)
- UnitedHealthcare
- Veteran Affairs Community Care Network (Optum-VACCN)
Ratings & Reviews
4.9 out of 5
44 ratings, 23 reviewsThe Patient Rating score is an average of all responses to physician related questions on the national CG-CAHPS Medical Practice patient experience survey through Press Ganey. Responses are measured on a scale of 1 to 5, with 5 being the best score. Comments are also gathered from our CG-CAHPS Medical Practice Survey through Press Ganey and displayed in their entirety. Patients are de-identified for confidentiality and patient privacy.
- 5 out of 5 starsReviewed on 2/17/2025
Excellent provider.
- 5 out of 5 starsReviewed on 12/9/2024
We have been seeing Dr Doyle for a while, and he's very knowledgeable and takes your concerns into consideration when providing care to our son.
- 5 out of 5 starsReviewed on 12/9/2024
Kid friendly. Very helpful . Quick
- 5 out of 5 starsReviewed on 12/2/2024
They all was great and really nice everything went well
- 5 out of 5 starsReviewed on 11/25/2024
We cannot even describe our appreciation to our provider and his team. They were very helpful in each step and give us confidence on what we decide for! We are very impressed by the team performance and by their remarkable talent and skills!
- 5 out of 5 starsReviewed on 11/18/2024
Dr. Doyle is very professional and very well informed about Elhers Danlos Syndrome and Postular Orthostatic Tachycardia and the affect they have on eyesight. I thought he was wonderful.
- 5 out of 5 starsReviewed on 11/11/2024
Dr Doyle and his direct team are exceptional, I have no criticism there. However I do have some comments regarding the department of eye photography (comments in next answer).
- 5 out of 5 starsReviewed on 10/22/2024
This is best doctor you have
- 5 out of 5 starsReviewed on 10/1/2024
Clearly exceptional at his expertise, easy to talk to, explains things clearly, has a good team around him who are clearly competent as well as being approachable and friendly.
- 5 out of 5 starsReviewed on 9/23/2024
Very polite and easy to understand all instructions
- 5 out of 5 starsReviewed on 8/26/2024
We are so blessed! We have no words to express our feeling we say thank god and God bless him!
- 5 out of 5 starsReviewed on 8/6/2024
The whole team is great and look forward to working with them to help find a cure for the eye disease.
- 5 out of 5 starsReviewed on 7/15/2024
Dr Doyle is the best!
- 5 out of 5 starsReviewed on 7/15/2024
Always happy and content after visiting my provider.
- 5 out of 5 starsReviewed on 5/20/2024
It is such a relief knowing our daughter is receiving the best care possible by a provider that is knowledgeable about her condition. We traveled 10 hours to see Dr Doyle and will continue to do so because I know my daughter is safe in his care.
- 4 out of 5 starsReviewed on 5/20/2024
Good
- 5 out of 5 starsReviewed on 5/13/2024
Excellent doctor for my eye condition
- 5 out of 5 starsReviewed on 5/13/2024
Dr. Doyle is extremely knowledgeable, patient, and caring.
- 5 out of 5 starsReviewed on 5/13/2024
Very easy to talk to. His examination was thorough. He was compassionate and encouraging.
- 5 out of 5 starsReviewed on 4/29/2024
Extremely thorough, In depth knowledge, thoughtful, compassionate, respectfulBest there can be!
- 5 out of 5 starsReviewed on 4/23/2024
He is an excellent doctor
- 5 out of 5 starsReviewed on 4/22/2024
Dr Doyle explains everything (initially, the diagnosis) that is going on and how and why he is providing certain treatment/instructions.He is very thorough.
- 5 out of 5 starsReviewed on 4/22/2024
Very nice kid friendly as well my grandchildren love there doctor