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Thomas McCarthy Bosley, M.D.

Headshot of Thomas McCarthy Bosley
  • Professor of Ophthalmology



Research Interests

optic neuropathy; neurologic causes of visual loss; diplopia; eye movement abnormalities; genetic abnormalities causing neuro-ophthalmologic problems more


Thomas M. Bosley, MD, is the Knights Templar Eye Foundation Professor of Ophthalmology at the Wilmer Eye Institute of Johns Hopkins University. He is interested in all aspects of Neuro-ophthalmology and has been particularly involved in genetic abnormalities affecting human vision and ocular motility.

He received his BA from Yale and his MD from Stanford.  He then completed a Neurology residency at the University of Pennsylvania and became board certified in Neurology (ABPN) in 1983.  He also did fellowships in Neuro-ophthalmology at Wills Eye Hospital in Philadelphia and in Neurochemistry at the Institute of Neurology, Queens Square, London.

After finishing his training, Dr. Bosley joined the Neuro-ophthalmology Unit at Wills Eye Hospital and practiced there and at other teaching hospitals in the Philadelphia area for the next 15 years. Since then, he has spent considerable periods of time in Riyadh, Saudi Arabia, as one of very few Neuro-ophthalmologists in the Middle East. Because of this experience he became particularly interested in genetic issues, including identifying a new genetic problem now known as the Bosley-Salih-Alorainy syndrome.

During his career, Dr. Bosley has been Chief at different times of two Neurology departments and of two Neuro-ophthalmology divisions. He has been Director of two Neurology Residency Programs; he also founded a Neurology Residency Program and a Neuro-ophthalmology Fellowship Program. He has co-authored more than 200 articles and chapters. more


  • Professor of Ophthalmology

Departments / Divisions



  • MD; Stanford University School of Medicine (1977)


  • Neurology; Hospital of the University of Pennsylvania (1982)


  • Neuro-Ophthalmology; Thomas Jefferson University Hospital (1983)

Board Certifications

  • American Board of Psychiatry And Neurology (Neurology) (1983)

Additional Training

  • Research Fellowship / MRC Developmental Neurobiology Unit, London / Neurochemistry (1981)

Research & Publications

Research Summary

2014-2016“Registry of congenital and genetic neuro-ophthalmic diseases in Saudi Arabia,” Saudi Arabia National Program for Science and Technology Grant 12-MED2621-02, Direct cost SR 1,797,000/2 yr; Principal Investigator Thomas M. Bosley, MD. I conceived, designed, and organized the project, 20% effort.

2010-2013“Hereditary Ocular Motility Abnormalities: A Clinical and Genetic Study,” King Abudulaziz City for Science and Technology Project AT-30-20; Direct cost SR 2,461,000/3 yr; Principal Investigator Khaled K. Abu-Amero, PhD. I was co-PI. I conceived, designed, and organized the project, 20% effort.

2009-2012“Hereditary Visual Loss: A Clinical and Genetic Study,” King Abudulaziz City for Science and Technology Project  AT-29-31; Direct cost SR 1,578,700/3 yr; Principal Investigator Thomas M. Bosley, MD. I conceived, designed, and organized the project, 20% effort.


Selected Publications

View all on PubMed

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OSM, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK. The Neurology of Carbonic Anhydrase Type II Deficiency Syndrome. Brain. 2011; 134:3502-3515.

Schutta HS, Abu-Amero KK, Bosley TM. Exceptions to the Valsalva Doctrine. Neurol. 2010; 74:329-335.

Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero KK, Engle EC.  Neurologic features of congenital fibrosis of the extraocular muscles type 2 with mutations of PHOX2A. Brain. 2006; 129:2363-2374.

Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester NJ, Oystreck DT, Chan W-M, Andrews C, Erickson RP, Engle EC.  HOXA1 dysgenesis syndrome disrupts human brainstem, inner ear, cardiovascular, and cognitive development. Nat Genet. 2005; 37:1035-1037.

Jen JC, Chan W-M, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC.  Mutations in a human Robo gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004; 304:1509-1513.

Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC.  Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001; 29:315-320.


Ocular neostigmine drops for diagnosing myasthenia gravis
Patent # No. 13/892,624 (pending) | 

Activities & Honors


  • Distinguished Researcher Program, King Saud University, 2008
  • Inductee, American Neurological Association, 1992
  • Fight for Sight Fellowship, 1982
  • American Heart Association Research Fellowship, 1980
  • Magna Cum Laude, Yale University, 1972


  • American Medical Association
  • Association for Research in Vision and Ophthalmology
  • North American Neuro-ophthalmologic Society (Fellow)
  • American Heart Association Stroke Council (Fellow)
  • American Neurological Association (Fellow)
  • American Academy of Neurology (Fellow)

Professional Activities

  • Saudi Ophthalmology Board Examiner, 1998
  • Board Examiner, American Board of Psychiatry and Neurology, 2005 - 2008
  • Board Examiner, American Board of Psychiatry and Neurology, 1991 - 1997
  • President, Philadelphia Neurologic Society, 1993 - 1993
  • Founder and Director, Neuro-Ophthalmology Fellowship Program, 1997 - 2005
  • Founder and Director, Neurology Residency Program, 2007 - 2008

Videos & Media

Lectures and Presentations

  • CCDD Update 2015
    Invited Talk, London (06/22/2015)
    Moorfields Eye Hospital
  • Visual and Neurologic Sequelae of Methanol Intoxication
    Invited Talk, 3rd Qatari International Ophthalmology Symposium, Doha, Qatar (01/24/2015)
  • Human Congenital Ocular Motility Phenotypes
    CME, 9th Annual Gulf Cooperative Council Neurology Meeting, Muscat, Oman (11/06/2014)
  • Treatment of Idiopathic Intracranial Hypertension—The IIH Treatment Trial
    CME, Journal Club for Department of Ophthalmology, Riyadh, Saudi Arabia (03/24/2015)
    King Saud University
  • The Afferent Visual System
    Invited Talk (06/25/2014)
    Dalhousie University
  • Visual Effects of Methanol Intoxication
    Grand Rounds, Trenton, NJ (05/09/2014)
    Capital Health Neuroscience Department
  • Cerebrovascular Disease: Screening, Prevention, and Acute Treatment
    Invited Talk, 34th Annual Eastern Shore Medical Symposium, Rehoboth Beach, DE (06/21/2011)
  • Ocular Motility Disturbances in Orbitofacial Neurofibromatosis Type 1
    CME, Association for Research in Vision and Ophthalmology 2014 Annual Meeting, Orlando, FL (05/05/2014)
  • Neurologic Injury in Isolated Sulfite Oxidase Deficiency
    CME, American Academy of Neurology 2014 Annual Meeting, Philadelphia, PA (04/30/2014)
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