Jefferson Doyle, MD, PhD, MHS
Pediatric Ophthalmology
Highlights
Age Groups Seen
- Infant 0-2
- Child 3-12
- Adolescent 13-17
Languages
- English
In-Network Plans
View All Accepted Plans (12)Gender
MaleJohns Hopkins Affiliations:
- Johns Hopkins School of Medicine Faculty
About Jefferson Doyle
Primary Academic Title
Assistant Professor of Ophthalmology
Johns Hopkins Physician
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
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Dream Team - Johns Hopkins Medicine (Dec. 2025)
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A Center for Genetic Eye Disease - Johns Hopkins Medicine (Oct. 2021)
Additional Academic Titles
Assistant Professor of Genetic Medicine
PubMed - Publications
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
- Get Directions
- phone: 410-955-5650
- fax: 443-769-1282
Expertise
Education
- Fellowship: Boston Children's Hospital, Pediatric Ophthalmology, 2018
- Residency: Johns Hopkins University School of Medicine, Ophthalmology, 2017
- Graduate School: Johns Hopkins University School of Medicine, PhD, 2015
- Medical Education: University of Cambridge School of Medicine, MBBChir, 2005
- Graduate School: Johns Hopkins Bloomberg School of Public Health, MHS, 2004
Board Certifications
- Ophthalmology: American Board of Ophthalmology, 2020
Insurance
- Aetna
- CareFirst
- Cigna
- First Health
- Geisinger Health Plan
- HealthSmart/Accel
- Johns Hopkins Health Plans
- MultiPlan
- Pennsylvania's Preferred Health Networks (PPHN)
- Point Comfort Underwriters
- Private Healthcare Systems (PHCS)
- Veteran Affairs Community Care Network (Optum-VACCN)
Ratings & Reviews
4.9 out of 5
48 ratings, 16 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 3/16/2026
There was a slight delay but nothing major. Once we were seen, everything moved along quickly.
- 5 out of 5 starsReviewed on 3/16/2026
Was professional, attentive to my daughter, and efficient. Very personable too..
- 5 out of 5 starsReviewed on 3/9/2026
Excellent medical care
- 5 out of 5 starsReviewed on 3/9/2026
Best doctor at Wilmer Eye Clinic. Excellent with teenagers.
- 5 out of 5 starsReviewed on 2/9/2026
Dr Doyle is wonderful. He goes above and beyond.
- 5 out of 5 starsReviewed on 1/5/2026
I am very satisfied with everything! He is best listener and give best direction. We are so blessed to have him!
- 5 out of 5 starsReviewed on 12/15/2025
Dr. Doyle is very thorough and caring. He's the best!
- 5 out of 5 starsReviewed on 11/17/2025
Dr. Jefferson Doyle showed exceptional care and listened closely to my daughter's condition. He examined her thoroughly and offered multiple solutions for her treatment. Exactly what you would expect from a top doctor in his field
- 5 out of 5 starsReviewed on 11/17/2025
He listened to us and was very informative. He made my son feel very relaxed
- 5 out of 5 starsReviewed on 10/14/2025
Dr Doyle is great. He follows up if needed and really cares for my daughter.
- 5 out of 5 starsReviewed on 10/6/2025
Dr. Doyle is excellent
- 5 out of 5 starsReviewed on 9/24/2025
Dr Doyle was wonderful, patient and encouraging throughout the exam.
- 5 out of 5 starsReviewed on 6/9/2025
We travel from Tennessee to see Dr Doyle. I think that shows how wonderful he is. We love him and we are so thankful for his knowledge in our daughter's condition and commitment to find ways to give her a better quality of life.
- 5 out of 5 starsReviewed on 6/2/2025
Dr. Doyle was excellent. A very kind and understanding doctor, with an excellent ability to communicate, including to children.
- 5 out of 5 starsReviewed on 5/19/2025
Excellent
- 4 out of 5 starsReviewed on 4/28/2025
Nice guy. Knowledgeable. But I didn't get to ask him some questions. Things moved swiftly. It was a good overall experience. My hope is I will be able to further address questions via MyChart.