Mark S Borchert, MD

Mark S. Borchert, MD earned a medical degree from Baylor College of Medicine. He completed his residency in the Department of Ophthalmology, University of Southern California, and a fellowship in neuro-ophthalmology at the Massachusetts Eye & Ear Infirmary, Harvard University. Dr. Borchert is the Director of Eye Birth Defects, leading the world’s largest study into optic nerve hypoplasia. Dr. Borchert, who has been listed in “Best Doctors in America,” also has received honors from the Pan American Association of Ophthalmology, the American Academy of Ophthalmology, and Society of Heed Fellows, as well as several teaching awards from the Keck School of Medicine. His research on the development of the retina and optic nerve in rats was part of an experiment on the NASA space shuttle.

Borchert investigates the development of the optic nerve and its retinotopic connections in the tectum (part of the midbrain) and thalamus (part of the forebrain). He is interested in the role that inaccurate or inadequate development of these connections plays in the pathogenesis of optic nerve hypoplasia, the leading cause of blindness in infants in the United states and Europe. His research focus also includes developing diagnostic tools using spectroscopic methods in the measurement of glucose levels in the eye.

• Pasadena Magazine Top Doctors Award, 2013-2014
• Pasadena Magazine Top Doctors Award, 2010
• LA Magazine: Super Doctors Award, 2010
• Best Doctors in America Award, 2009
• LA Magazine Best Doctors in Southern California, 2009
• Pasadena Magazine Top Doctors Award, 2008
• America’s Top Doctors, 2006-2009
• Best Doctors in America Award, 2006
• American Academy of Ophthalmology: Achievement Award, 2002
• Keck School of Medicine of USC: Resident Teaching Award, 2001
• Keck School of Medicine of USC: Resident Teaching Award, 1999
• Keck School of Medicine of USC: Resident Teaching Award, 1996
• Keck School of Medicine of USC: Senior Resident Teaching Award, 1994
• Keck School of Medicine of USC: Resident Teaching Award, 1991-1994

• Validity and reliability of eye tracking for visual acuity assessment in children with cortical visual impairmentJ AAPOS. 2021 12; 25(6):334. e1-334. e5. . View in PubMed
• Ophthalmologic characteristics and outcomes of children with cortical visual impairment and cerebral palsyJ AAPOS. 2021 08; 25(4):223. e1-223. e6. . View in PubMed
• Autosomal Recessive Leber Hereditary Optic Neuropathy Triggered by Superior Mesenteric Artery Syndrome J Neuroophthalmol. 2024 Apr 02. . View in PubMed
• Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia Ophthalmic Genet. 2024 Feb; 45(1):1-15. . View in PubMed
• An unexpected turn: a case of torsional anomalous retinal correspondence after myectomy of previously anteriorized inferior oblique muscles in a child J AAPOS. 2024 Feb; 28(1):103820. . View in PubMed
• Supracerebellar infratentorial resection of a torcular lesion causing fulminant intracranial hypertension: illustrative case J Neurosurg Case Lessons. 2023 Dec 18; 6(25). . View in PubMed
• Comparison of Eye Tracking and Teller Acuity Cards for Visual Acuity Assessment in Pediatric Cortical/Cerebral Visual Impairment Am J Ophthalmol. 2023 Dec 07; 260:115-121. . View in PubMed
• Preretinal Hemorrhage in Myelin Oligodendrocyte Glycoprotein-Associated Disease Ophthalmol Retina. 2023 Dec; 7(12):1108. . View in PubMed
• Delayed Diagnosis of Childhood-Onset Huntington Disease in an 8-Year-Old Boy With Ocular Motor Apraxia J Neuroophthalmol. 2023 Dec 01; 43(4):e304-e305. . View in PubMed
• Giant Dacryops in a 4-year-old Child Ophthalmology. 2023 Jul 19. . View in PubMed
• Full-field Scotopic Threshold Improvement after Voretigene Neparvovec-rzyl Treatment Correlates with Chorioretinal Atrophy Ophthalmology. 2023 Jul; 130(7):764-770. . View in PubMed
• Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy Br J Ophthalmol. 2023 03; 107(3):299-301. . View in PubMed
• The Nictavi Tarsus Patch: A New Device for Achieving Temporary Eyelid Closure in Lagophthalmos Clin Ophthalmol. 2023; 17:1877-1884. . View in PubMed
• Association of prepregnancy body mass index and gestational weight gain on severity of optic nerve hypoplasia Birth Defects Res. 2023 04 15; 115(7):753-763. . View in PubMed
• Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children J Pediatr Ophthalmol Strabismus. 2022 Sep-Oct; 59(5):326-331. . View in PubMed
• Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome) Am J Ophthalmol Case Rep. 2022 Jun; 26:101506. . View in PubMed
• The Pediatric Optic Neuritis Prospective Outcomes Study: Two-Year Results Ophthalmology. 2022 08; 129(8):856-864. . View in PubMed
• Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis Ophthalmol Retina. 2022 01; 6(1):58-64. . View in PubMed
• Etiology and Outcomes of Acquired Pediatric Sixth Nerve Palsies J Neuroophthalmol. 2022 03 01; 42(1):e254-e259. . View in PubMed
• Increase in Pediatric Pseudotumor Cerebri Syndrome Emergency Department Visits, Inpatient Admissions, and Surgeries During the COVID-19 Pandemic J Neuroophthalmol. 2022 03 01; 42(1):e87-e92. . View in PubMed
• Paroxysmal tonic upgaze (PTU) associated with CACNA1A mutation and gross motor delayJ AAPOS. 2021 12; 25(6):353-353. e1. . View in PubMed
• Repeated measurements of ERGs and VEPs using chloral hydrate sedation and propofol anesthesia in young children Doc Ophthalmol. 2021 10; 143(2):141-153. . View in PubMed
• Cortical Visual Impairment Treated by Plasmapheresis in a Child With Metronidazole-Induced Encephalopathy J Neuroophthalmol. 2021 03 01; 41(1):e66-e68. . View in PubMed
• Methods of visual assessment in children with cortical visual impairment Curr Opin Neurol. 2021 02 01; 34(1):89-96. . View in PubMed
• Advances in the evaluation and management of cortical/cerebral visual impairment in children Surv Ophthalmol. 2020 Nov – Dec; 65(6):708-724. . View in PubMed
• Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision Br J Ophthalmol. 2020 10; 104(10):1458-1461. . View in PubMed
• Assessment of Pediatric Optic Neuritis Visual Acuity Outcomes at 6 Months JAMA Ophthalmol. 2020 12 01; 138(12):1253-1261. . View in PubMed
• Papilledema Treated by Cranial Expansion in a 5-Year-Old Boy with Camurati-Engelmann Syndrome Ophthalmology. 2019 11; 126(11):1579. . View in PubMed
• Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy JAMA Ophthalmol. 2019 12 01; 137(12):1381-1388. . View in PubMed
• Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment J Neuroophthalmol. 2018 12; 38(4):429-433. . View in PubMed
• Decreased severity of age-related macular degeneration in amblyopic eyes Br J Ophthalmol. 2018 11; 102(11):1575-1578. . View in PubMed
• Predictive value of N95 waveforms of pattern electroretinograms (PERGs) in children with optic nerve hypoplasia (ONH) Doc Ophthalmol. 2017 10; 135(2):97-106. . View in PubMed
• Pediatric Optic Neuritis: What Is New J Neuroophthalmol. 2017 09; 37 Suppl 1:S14-S22. . View in PubMed
• Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia Horm Res Paediatr. 2017; 88(3-4):251-257. . View in PubMed
• Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution J AAPOS. 2016 Apr; 20(2):121-5. . View in PubMed
• The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines Adv Pediatr. 2016 08; 63(1):127-46. . View in PubMed
• Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency Int J Pediatr Endocrinol. 2016; 2016:5. . View in PubMed
• An evaluation of the safety and efficacy of bimatoprost for eyelash growth in pediatric subjects Clin Ophthalmol. 2016; 10:419-29. . View in PubMed
• Fanfare for the Uncommon Neuro-Ophthalmologist: A Tribute to Irma Miller Lessell J Neuroophthalmol. 2015 Sep; 35(3):e24-5. . View in PubMed
• Comparison of human expert and computer-automated systems using magnitude-squared coherence (MSC) and bootstrap distribution statistics for the interpretation of pattern electroretinograms (PERGs) in infants with optic nerve hypoplasia (ONH) Doc Ophthalmol. 2015 Aug; 131(1):25-34. . View in PubMed
• Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia J Child Neurol. 2015 Feb; 30(2):233-7. . View in PubMed
• Absence of age-related optic disk changes in young children with optic nerve hypoplasia Eye (Lond). 2014 May; 28(5):562-6. . View in PubMed
• Re: Ramakrishnaiah et al: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia (Ophthalmology 2014;121:387-91). Ophthalmology. 2014 May; 121(5):e26-7. . View in PubMed
• Autism assessment in children with optic nerve hypoplasia and other vision impairments Dev Med Child Neurol. 2014 Jan; 56(1):66-72. . View in PubMed
• Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus Surv Ophthalmol. 2013 Nov-Dec; 58(6):610-9. . View in PubMed
• Prevalence of amblyopia or strabismus in asian and non-Hispanic white preschool children: multi-ethnic pediatric eye disease study Ophthalmology. 2013 Oct; 120(10):2117-24. . View in PubMed
• Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia J AAPOS. 2013 Oct; 17(5):490-3. . View in PubMed
• Prevalence of myopia, hyperopia, and astigmatism in non-Hispanic white and Asian children: multi-ethnic pediatric eye disease study Ophthalmology. 2013 Oct; 120(10):2109-16. . View in PubMed
• Prevalence and causes of visual impairment in Asian and non-Hispanic white preschool children: Multi-ethnic Pediatric Eye Disease Study Ophthalmology. 2013 Jun; 120(6):1220-6. . View in PubMed
• Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations Curr Treat Options Neurol. 2013 Feb; 15(1):78-89. . View in PubMed
• Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision J AAPOS. 2012 Oct; 16(5):418-23. . View in PubMed
• ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous Hum Mol Genet. 2012 Aug 15; 21(16):3681-94. . View in PubMed
• Reappraisal of the optic nerve hypoplasia syndrome J Neuroophthalmol. 2012 Mar; 32(1):58-67. . View in PubMed
• Serum prolactin concentrations in relation to hypopituitarism and obesity in children with optic nerve hypoplasia Horm Res Paediatr. 2012; 77(5):277-80. . View in PubMed
• Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia Int J Pediatr Endocrinol. 2011 Nov 15; 2011(1):17. . View in PubMed
• Risk factors associated with childhood strabismus: the multi-ethnic pediatric eye disease and Baltimore pediatric eye disease studies Ophthalmology. 2011 Nov; 118(11):2251-61. . View in PubMed
• Risk factors for decreased visual acuity in preschool children: the multi-ethnic pediatric eye disease and Baltimore pediatric eye disease studies Ophthalmology. 2011 Nov; 118(11):2262-73. . View in PubMed
• Neurocognitive outcomes in pediatric and adolescent patients with central nervous system germinoma treated with a strategy of chemotherapy followed by reduced-dose and volume irradiation Pediatr Blood Cancer. 2011 Oct; 57(4):669-73. . View in PubMed
• Risk factors for astigmatism in preschool children: the multi-ethnic pediatric eye disease and Baltimore pediatric eye disease studies Ophthalmology. 2011 Oct; 118(10):1974-81. . View in PubMed
• Risk factors for hyperopia and myopia in preschool children the multi-ethnic pediatric eye disease and Baltimore pediatric eye disease studies Ophthalmology. 2011 Oct; 118(10):1966-73. . View in PubMed
• General health-related quality of life in preschool children with strabismus or amblyopia Ophthalmology. 2011 Mar; 118(3):574-80. . View in PubMed
• Prevalence of astigmatism in 6- to 72-month-old African American and Hispanic children: the Multi-ethnic Pediatric Eye Disease Study Ophthalmology. 2011 Feb; 118(2):284-93. . View in PubMed
• Prevalence and risk factors for disrupted circadian rhythmicity in children with optic nerve hypoplasia Br J Ophthalmol. 2010 Oct; 94(10):1358-62. . View in PubMed
• Clinical electrophysiology and visual outcome in optic nerve hypoplasia Br J Ophthalmol. 2010 Aug; 94(8):1017-23. . View in PubMed
• Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors Acta Ophthalmol. 2010 Aug; 88(5):527-34. . View in PubMed
• Anisometropia in Hispanic and african american infants and young children the multi-ethnic pediatric eye disease studyOphthalmology. 2010 Jan; 117(1):148-153. e1. . View in PubMed
• Evolving central hypothyroidism in children with optic nerve hypoplasia J Pediatr Endocrinol Metab. 2010 Jan-Feb; 23(1-2):53-8. . View in PubMed
• Light-adapted electroretinograms in optic nerve hypoplasia Doc Ophthalmol. 2009 Oct; 119(2):123-32. . View in PubMed
• Visual acuity norms in pre-school children: the Multi-Ethnic Pediatric Eye Disease Study Optom Vis Sci. 2009 Jun; 86(6):607-12. . View in PubMed
• Successful switch from insulin therapy to treatment with pioglitazone in type 2 diabetes patients with residual beta-cell function: results from the PioSwitch study Diabetes Obes Metab. 2009 May; 11(5):464-71. . View in PubMed
• Fixation preference and visual acuity testing in a population-based cohort of preschool children with amblyopia risk factors Ophthalmology. 2009 Jan; 116(1):145-53. . View in PubMed
• The syndrome of optic nerve hypoplasia Curr Neurol Neurosci Rep. 2008 Sep; 8(5):395-403. . View in PubMed
• Testability of the Retinomax autorefractor and IOLMaster in preschool children: the Multi-ethnic Pediatric Eye Disease StudyOphthalmology. 2008 Aug; 115(8):1422-51425. e1. . View in PubMed
• Long-term outcomes of pediatric ocular myasthenia gravisOphthalmology. 2008 Jul; 115(7):1245-1248. e1. . View in PubMed
• Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study Pediatrics. 2008 Mar; 121(3):e653-9. . View in PubMed
• Stereoacuity testability in African-American and Hispanic pre-school children Optom Vis Sci. 2008 Mar; 85(3):158-63. . View in PubMed
• Pediatric optic neuritis J Med Assoc Thai. 2008 Mar; 91(3):323-30. . View in PubMed
• Optic nerve hypoplasia and hypopituitarism Pediatr Endocrinol Rev. 2008 Mar; 5(3):772-7. . View in PubMed
• Visual acuity testability in African-American and Hispanic children: the multi-ethnic pediatric eye disease study Am J Ophthalmol. 2007 Nov; 144(5):663-7. . View in PubMed
• Retinal function in infants with optic nerve hypoplasia: electroretinograms to large patterns and photopic flash Eye (Lond). 2007 Jun; 21(6):712-20. . View in PubMed
• Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report Blood. 2007 Jan 15; 109(2):503-6. . View in PubMed
• Measurement of amphotericin B concentration by resonant Raman spectroscopy–a novel technique that may be useful for non-invasive monitoring Med Mycol. 2006 Mar; 44(2):169-74. . View in PubMed
• Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study J Pediatr. 2006 Jan; 148(1):78-84. . View in PubMed
• Validation of ICNIRP estimates of toxicity thresholds for NIR (785 nm) light in the retinas of pigmented rabbits Health Phys. 2006 Jan; 90(1):3-10. . View in PubMed
• Determination of glucose in human aqueous humor using Raman spectroscopy and designed-solution calibration Appl Spectrosc. 2005 Aug; 59(8):1024-31. . View in PubMed
• Glucose determination in human aqueous humor with Raman spectroscopy J Biomed Opt. 2005 May-Jun; 10(3):031110. . View in PubMed
• Opsoclonus-ataxia caused by childhood neuroblastoma: developmental and neurologic sequelae Pediatrics. 2002 Jan; 109(1):86-98. . View in PubMed
• Clinical diversity of hereditary Duane’s retraction syndrome Ophthalmology. 2000 Mar; 107(3):500-3. . View in PubMed
• Localization of a gene for Duane retraction syndrome to chromosome 2q31 Am J Hum Genet. 1999 Dec; 65(6):1639-46. . View in PubMed
• The relationship between stereopsis and monocular optokinetic optokinetic nystagmus after infantile cataracts J AAPOS. 1999 Aug; 3(4):221-6. . View in PubMed
• Exclusion of candidate genetic loci for Duane retraction syndrome Am J Ophthalmol. 1999 Mar; 127(3):358-60. . View in PubMed
• Idiopathic intracranial hypertension in prepubertal pediatric patients: characteristics, treatment, and outcome Am J Ophthalmol. 1999 Feb; 127(2):178-82. . View in PubMed
• Grand rounds #53: A case of small angle strabismus, torsion, aniseikonia and diplopia associated with epiretinal membranes [clincical conference] Binocul Vis Strabismus Q. 1999; 14(1):46-51; discussion 51-2. . View in PubMed
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• Comparisons of contact lens, foil, fiber and skin electrodes for patterns electroretinograms Doc Ophthalmol. 1997-1998; 94(4):327-40. . View in PubMed
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• Chang, Melinda
• Humayun, Mark