Information

Related Research Units

Ophthalmology Research
The Whitman Lab Research

Research Overview

Dr. Mary Whitman is a practicing pediatric ophthalmologist and strabismus surgeon and is one of relatively few pediatric ophthalmologists in the country combining clinical care with basic research.

Research Background

Dr. Mary Whitman is a practicing pediatric ophthalmologist and strabismus surgeon and is one of relatively few pediatric ophthalmologists in the country combining clinical care with basic research. Her undergraduate degree is in Biochemical Sciences from Harvard College. She obtained her MD and PhD in Neurobiology at Yale University, where she studied migration along the rostral migratory stream and synaptic integration of adult-born neurons in both mouse and human. She showed that newborn granule cells in the olfactory bulb receive incoming synapses before integrating into the local circuit. She completed ophthalmology residency at Columbia University. Dr. Whitman was a fellow in the Boston Children’s Ophthalmology program in 2013/2014, immediately afterward becoming an Instructor in the Department of Ophthalmology, Boston Children’s Hospital and Harvard Medical School, and a scholar with the Harvard Vision Clinical Scientist Development Program (K12), under the mentorship of Dr. Elizabeth Engle. In 2017, she transitioned from the K12 program to an individual K08 award, studying mechanisms of axon guidance in the oculomotor nerve in both normal development and a rare form of paralytic strabismus, Congenital Fibrosis of the Extraocular Muscles (CFEOM).

She was appointed Assistant Professor of Ophthalmology in 2019. Recently, she has created several new techniques, including ex vivo oculomotor slice cultures, and made significant advances in the understanding of oculomotor development. She has contributed more than 20 peer-reviewed papers to the literature within 5 years, including a paradigm-shifting paper questioning the use of bifocals in accommodative esotropia and some magnificent work related to neural development in extraocular muscles and beyond.

She has given invited lectures regionally, nationally, and internationally. She has been named the Precision Medicine Expert for the Ophthalmology Department at BCH and is on the Genetics Subcommittee of the American Association for Pediatric Ophthalmology and Strabismus.

Teaching and mentoring are very important to Dr. Whitman, as she credits a series of wonderful mentors who have been instrumental in her career. Her clinical teaching is to residents and fellows, in the clinic and operating room, and while on call. Her didactic teaching includes instructing research fellows in the “Molecular Mechanisms of Eye Disease” course, and clinical fellows and residents in our weekly ophthalmology conference. As a clinician-scientist, she informally mentors residents, medical students, and junior faculty who are interested in combining clinical care and research, and specifically in writing K awards. She also makes herself available to students (especially MD/PhD students) for clinical shadowing and mentoring. She has also informally mentored several research assistants in the lab.

Education

Undergraduate School

Harvard College
2001 Cambridge MA

Medical School

Yale University School of Medicine
2009 New Haven CT

Internship

New York University
2010 New York NY

Residency

Columbia University–New York Presbyterian
2013 New York NY

Fellowship

Boston Children's Hospital
2014 Boston MA

Publications

  1. Genome Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program. Ophthalmology. 2025 Jan 20. View Abstract
  2. Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. Genes (Basel). 2025 Jan 12; 16(1). View Abstract
  3. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
  4. Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays. bioRxiv. 2024 Sep 15. View Abstract
  5. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. View Abstract
  6. Congenital cranial dysinnervation disorder with homozygous KIF26A variant. J AAPOS. 2024 Aug; 28(4):103951. View Abstract
  7. Neuromuscular Junction Development Differs Between Extraocular and Skeletal Muscles and Between Different Extraocular Muscles. Invest Ophthalmol Vis Sci. 2024 May 01; 65(5):28. View Abstract
  8. Mental Health Conditions Associated With Strabismus in a Diverse Cohort of US Adults. JAMA Ophthalmol. 2024 May 01; 142(5):472-475. View Abstract
  9. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv. 2024 Mar 26. View Abstract
  10. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. 2024 Mar 01; 142(3):243-247. View Abstract
  11. Genetics of strabismus. Front Ophthalmol (Lausanne). 2023; 3. View Abstract
  12. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 07; 55(7):1149-1163. View Abstract
  13. Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome. Invest Ophthalmol Vis Sci. 2022 09 01; 63(10):4. View Abstract
  14. TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Dev Biol. 2022 10; 490:126-133. View Abstract
  15. First Visit Characteristics Associated with Future Surgery in Intermittent Exotropia. J Binocul Vis Ocul Motil. 2022 Jan-Mar; 72(1):22-28. View Abstract
  16. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec; 140(12):1709-1731. View Abstract
  17. Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders. Annu Rev Vis Sci. 2021 09 15; 7:827-850. View Abstract
  18. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 05; 29(5):816-826. View Abstract
  19. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22. View Abstract
  20. Ocular injury via epinephrine auto-injector. J AAPOS. 2020 06; 24(3):179-181. View Abstract
  21. Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 11 12; (153). View Abstract
  22. Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Rep. 2019 10 08; 29(2):437-452.e4. View Abstract
  23. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125. View Abstract
  24. Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. J Vis Exp. 2019 07 16; (149). View Abstract
  25. Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. J AAPOS. 2019 08; 23(4):226-228.e1. View Abstract
  26. Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):5201-5209. View Abstract
  27. Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 08 14; 24(7):1865-1879.e9. View Abstract
  28. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 08 01; 59(10):4054-4064. View Abstract
  29. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 08 01; 26(R1):R37-R44. View Abstract
  30. Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2388-2396. View Abstract
  31. Reply. Ophthalmology. 2017 01; 124(1):e11. View Abstract
  32. Bifocals Fail to Improve Stereopsis Outcomes in High AC/A Accommodative Esotropia. Ophthalmology. 2016 Apr; 123(4):690-6. View Abstract
  33. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb; 170A(2):297-305. View Abstract
  34. Complications of pediatric cataract surgery. Semin Ophthalmol. 2014 Sep-Nov; 29(5-6):414-20. View Abstract
  35. Retinal vasculature remodeling in a case of systemic lupus erythematosus vaso-occlusive retinopathy. Retin Cases Brief Rep. 2014; 8(1):77-82. View Abstract
  36. Dent in the forehead: a rare manifestation of metastatic cancer. Arch Ophthalmol. 2012 Oct; 130(10):1349-51. View Abstract
  37. A case of lower extremity venous thrombosis in the pediatric emergency department: associations with May-Thurner syndrome and isotretinoin use. Pediatr Emerg Care. 2011 Feb; 27(2):125-8. View Abstract
  38. Short tag noose technique for optional and late suture adjustment in strabismus surgery. Arch Ophthalmol. 2009 Dec; 127(12):1584-90. View Abstract
  39. Blood vessels form a migratory scaffold in the rostral migratory stream. J Comp Neurol. 2009 Sep 10; 516(2):94-104. View Abstract
  40. Adult neurogenesis and the olfactory system. Prog Neurobiol. 2009 Oct; 89(2):162-75. View Abstract
  41. Principles of glomerular organization in the human olfactory bulb--implications for odor processing. PLoS One. 2008 Jul 09; 3(7):e2640. View Abstract
  42. Dynamic contribution of nestin-expressing stem cells to adult neurogenesis. J Neurosci. 2007 Nov 14; 27(46):12623-9. View Abstract
  43. Synaptic integration of adult-generated olfactory bulb granule cells: basal axodendritic centrifugal input precedes apical dendrodendritic local circuits. J Neurosci. 2007 Sep 12; 27(37):9951-61. View Abstract
  44. Adult-generated neurons exhibit diverse developmental fates. Dev Neurobiol. 2007 Jul; 67(8):1079-93. View Abstract
  45. A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):200-14. View Abstract
  46. A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2005 Dec; 30(4):538-51. View Abstract
  47. Disulfide bond-mediated dimerization of HLA-G on the cell surface. Proc Natl Acad Sci U S A. 2002 Dec 10; 99(25):16180-5. View Abstract
  48. Binding of the natural killer cell inhibitory receptor Ly49A to its major histocompatibility complex class I ligand. Crucial contacts include both H-2Dd AND beta 2-microglobulin. J Biol Chem. 2002 Jan 11; 277(2):1433-42. View Abstract
  49. Kinetics and thermodynamics of beta 2-microglobulin binding to the alpha 3 domain of major histocompatibility complex class I heavy chain. Biochemistry. 2001 May 01; 40(17):5233-42. View Abstract
  50. The isolated major histocompatibility complex class I alpha3 domain binds beta2m and CD8alphaalpha dimers. Mol Immunol. 2000 Feb-Mar; 37(3-4):141-9. View Abstract
  51. ICAM-1 co-stimulation has differential effects on the activation of CD4+ and CD8+ T cells. Eur J Immunol. 1999 03; 29(3):809-14. View Abstract
  52. Duane Syndrome. GeneReviews®. 1993. View Abstract
  53. Congenital Fibrosis of the Extraocular Muscles. GeneReviews®. 1993. View Abstract

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