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Allison Ashley-Koch, PhD

Simon G. Gregory, PhD

Elizabeth R. Hauser, PhD

Michael A. Hauser, PhD

Yi-Ju Li, PhD

Yutao Liu, PhD

Svati H. Shah, MD, MHS

Michelle P. Winn, MD

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Core Faculty

Terri L. Young, MDTerri L. Young, MD, MBA, is a Professor of Ophthalmology, Pediatrics and Medicine. Dr. Young is a clinician-scientist who specializes in the medical and surgical management of pediatric eye disorders, adult/childhood strabismus (eye misalignment) and ophthalmic genetics. She has developed a program with clinical geneticists to provide comprehensive care and evaluation of patients with genetic disorders with accompanying eye issues. Young has received Honor Awards from the American Academy of Ophthalmology, and the American Association of Pediatric Ophthalmology and Strabismus. She is a Fellow of the prestigious American Ophthalmological Society, the Association of Research in Vision and Ophthalmology, and the College of Philadelphia Physicians.

Medical School - Harvard Medical School, Boston MA
Medical Internship - Boston Children's Hospital, Boston MA
Ophthalmology Residency - University of Illinois at Chicago, Chicago IL
Fellowship in Pediatric Ophthalmology and Strabismus - University of Pennsylvania, Philadelphia PA
Sabbatical in Ophthalmic Genetics - Johns Hopkins Wilmer Eye Institute, Baltimore MD
Master in Business Administration - Duke University Fuqua School of Business, Durham NC

Genetics and Myopia

Myopia (nearsightedness) is a potentially blinding eye condition, and it is the most common human eye disorder. Genetic studies of myopia are limited, and historically have been small sample-size reports. Molecular genetic analyses of myopia in general have not been fully explored, and findings to date suggest a difference in genetic influences in moderate myopia versus that of high myopia. We seek to gain a greater understanding of the molecular genetic basis of myopia. State-of-the-art molecular genetic and statistical tools have been used to correlate genotypic with clinical information. We hypothesize that the identification of myopia susceptibility genes will not only provide insight into the molecular basis of this significant eye disorder, but will also identify pathways that are involved in eye growth and development. This effort may lead to effective therapies to treat or potentially prevent this common eye condition.

Selected Publications

Young TL, Metlapally R, Shay A. Complex Trait Genetics of Refractive Error. Arch Ophthalmol 2007;125:38-48.

Pediatric Eye Disease Investigator Group. Stability of visual acuity improvement following discontinuation of amblyopia treatment in children 7 to 12 years old. Arch Ophthalmol 2007;125:655-659.

Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis. 2007;13:229-236.

Pediatric Eye Disease Investigator Group. Treatment of bilateral refractive amblyopia in children three to less than 10 years of age. Am J Ophthalmol 2007;144:487-496.

Pediatric Eye Disease Investigator Group. Primary treatment of nasolacrimal duct obstruction with probing in children younger than 4 years. Ophthalmology 2008;115:577-584.e3.

Metlapally R, Li Y-J, Tran-Viet KN, Bulusu A, White TR, Ellis J, Kao D, Young TL. Common MFRP sequence variants are not associated with moderate-high hyperopia, isolated microphthalmia and high myopia. Mol Vis. 2008;14:387-393.

Zhou J, Kherani F, Bardakjian TM, Katowitz J , Hughes N, Schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008;14:583-592.

Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008;146:2794-2798.

White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang T, Tran-Viet KN, Young TL. Identification of STRA6 and SKI sequence variants in patients with anophthalmia and microphthalmia. Mol Vis. 2008;14:2458-2465.

Pediatric Eye Disease Investigator Group, Christiansen SP, Chandler DL, Holmes JM, Arnold RW , Birch E, Dagi LR, Hoover DL, Klimek DL, Melia BM, Paysse E, Repka MX, Suh DW, Ticho BH, Wallace DK, Weaver RG Jr. Instability of ocular alignment in childhood esotropia. Ophthalmology 2008;115:2266-2274.e4.

Young TL. Molecular Genetics of Human Myopia: An Update. Optom Vis Sci 2009;86:E8-E22.

Zayats T, Yanovitch T, Creer RC, McMahon G, Li Y-J, Young TL, Guggenheim JA. Myocilin polymorphisms and high myopia in subjects of European origin. Mol Vis 2009; 15:213-222.

Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore, AT, Zuchner S, Rickman, CB, Young TL. Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies. Invest Ophthalmol Vis Sci 2009; 50:1552-8.

McBrien NA, Young TL, Pang CP, Hammond C, Baird P, Saw S-M, Morgan IG, Mutti DO, Rose KA, Wallman J, Gentle A, Wildsoet CF, Gwiazda J, Schmid KL, Smith E 3rd, Troilo D, Summers-Rada J, Norton TT, Schaeffel F, Megaw P, Beuerman RW, McFadden SA. Myopia: Recent Advances in Molecular Studies; Prevalence, Progression and Risk Factors; Emmetropization; Therapies; Optical Links; Peripheral Refraction; Sclera and Ocular Growth; Signalling Cascades; and Animal Models. Optom Vis Sci 2009;86:45-66

Dirani M, Paul Mitchell P, Rose K, Gazzard G, Tong L, Young TL, Chia A, Xiaoe Z, Saw S-M. Outdoor activity and myopia in Singapore teenage children. Br J Ophthalmol 2009; Feb 11.

Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby C, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF. Replication of the Recessive STBMS1 Locus but with Dominant Inheritance. Invest Ophthalmol Vis Sci. 2009 50:3210-3217.

Li Y-J, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey D, Young TL. An International Collaborative Family-based Whole Genome Linkage Scan for High-Grade Myopia. Invest Ophthalmol Vis Sci. 2009 50:3116-3127.

Trager MJ, Dirani M, Fan Q, Gazzard G, Selvaraj P, Chia A, Wong T-Y, Young TL, Varma R, Saw S-M. Testability of Vision and Refraction in Preschool Children: The Strabismus, Amblyopia and Refractive Error Study in Singapore Children. American Journal of Ophthalmology, Volume 148, Issue 2, Pages 235-241.

Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL. Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome. Arch Ophthalmol, Nov 2009; 127: 1511 - 1519

Metlapally R, Ki C-S, Li Y-J, Tran Viet K-N, Abbott D, Malecaze F, Calvas P, Mackey D, Rosenberg T, Paget S, Guggenheim J, Young TL. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci. 2010 51:4476-9.

Low W, Dirani M, Gazzard G, Chan Y-H, Zhou HJ, Prabakaran S, Au-Eong KG, Young TL, Mitchell P, Wong TY, Saw S-M. Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children. Br J Ophthalmol 2010;94:1012-1016.

Mackey DA, MacKinnon JR, Brown SA, Kearns LS, Ruddle JB, Sanfilippo P, Sun C, Hammond C, Young TL, Martin, NG, Hewitt AW. Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins. Twin Research and Human Genetics, 12 5: 441-454.

Khor CC, Fan Q, Goh LK, Wong TY, Li YJ, Cheung N, Seielstad M, Goh DL, Young TL, Tai ES, Saw SM. Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese. Ophthalmology. 2010 May;117(5):939-45.

MacGregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum. Mol. Genet. (2010) 19 (13): 2716-2724.

Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, MacGregor S, Craig JE, Mackey DA. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet. 2010 May 13;6(5):e1000947.

Li Y-J, Goh LK, Khor CC, Fan Q, Yu M, Han S, Sim X, Ong RT, Wong T-Y, Vithana EN, Yap E, Nakanishi H, Matsuda F, Ohno-Matsui K, Yoshimura N, Seielstad M, Tai E-S, Young TL, Saw S-M. Genome-Wide Association Studies Reveal Genetic Variants in CTNND2 for High Myopia in Singapore Chinese. Opthalmology. 2011 Feb;118(2):368-75.

Hysi, PG*, Young TL*, Mackey DA, Andrew T, et. al. Porteros A, Lopes MC, Carbonaro F, Fahy SJ, Martin NG, van Duijn CM, Spector TD, Rahi JS, Santos E, Klaver CC, Hammond CJ. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q2. Nature Genetics 42, 902-905(2010).
*Co-first authors

Solouki AM, Verhoeven VJM, ,Young TL, ..., Klaver CC. Genome-wide association study identifies a locus on chromosome 15q14 for refractive errors and myopia in the general population. Nature Genetics 42, 897-901(2010).

Thorleiffson G, Wlalters GB, Hewitt A, , Young TL, , Stefansson K. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nature Genetics 42, 906-909(2010).

Chang L, El-Dairi M, Frempong T, Burner E, Bhatti T, Young TL, Leigh F. Optical coherence tomography in the evaluation of Neurofibromatosis Type-1 subjects with optic pathway gliomas. Journal of the American Association of Pediatric Ophthalmology and Strabismus 2010 Dec;14 (6):511-7.

Ikram MK, Sim X, Jensen RA, Cotch MF, .Young TL, , Wong TY. Four Novel Loci (19q13, 6q24, 12q24 and 5q14) Influence the Microcirculation In Vivo. PLoS Genet. 2010 Oct 28;6 (10):e1001184.

Lamoureux EL, Marella M, Chang B, Dirani M, Kah-Guan AE, Chia A, Young TL, Wong TY, Saw SM. Is the Pediatric Quality of Life Inventory Valid for Use in Preschool Children with Refractive Errors? Optometry and Vision Science. 2010 Nov;87(11):813-22.

Yanovitch T, Wallace DK, Freedman SF, Enyedi LB, Kishnani P, Worley G, Crissman B, Burner E, Young TL. The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome. Journal of the American Association of Pediatric Ophthalmology and Strabismus 2010 Dec;14 (6):472-7.

Leo SW, Young TL. An evidence-based update on myopia and interventions to retard its progression. Journal of the American Association of Pediatric Ophthalmology and Strabismus. 2011 Apr;15(2):181-9.

Lyle R, Awal R, Bindu G, Giacobino A, Bartoloni L, Palura P, Young TL, Morris M, Antonarakis S, Radhakrishna U. Refinement of the X-linked Nonsyndromic High-Grade Myopia Locus (MYP1) on Xq28 and Exclusion of thirteen Known Positional Candidate Genes by Direct Sequencing. Invest. Ophthalmol. Vis. Sci. August 29, 2011 vol. 52 no. 9 6814-6819

Sanfilippo PG, Medland SE, Hewitt AW, Kearns LS, Ruddle JB, Sun C, Hammond CJ, Young TL, Martin NG, Mackey DA. Ophthalmic Phenotypes and the Representativeness of Twin Data for the General Population. Invest. Ophthalmol. Vis. Sci. July 27, 2011 vol. 52 no. 8 5565-5572

Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN, Malecaze F, Calvas P, Rosenberg T, Guggenheim JA, Young TL. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Molecular Vision. 2011; 17:2118-2128.

Fan Q, Zhou X, Khor C-C, Cheng C-Y, Goh L-K, ..., Young TL, .... Genome-Wide Meta-analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism. PLoS Genet. 2011 December; 7(12): e1002402.

Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA Genetic Variants near PDGFRA Are Associated with Corneal Curvature in Australians. Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131-6.

Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, Takahashi A, Maeda S, Tsunoda T, Chen P, Lim SC, Wong TY, Liu J, Young TL, ... , Tanaka T. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet. 2012 Jul 15;44(8):904-9.

Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, Khor CC, Goh LK, Li YJ, Lim W, Ho CE, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai ES, Yoshimura N, Aung T, Young TL, Wong TY, Teo YY, Saw SM. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet. 2012;8(6):e1002753. Epub 2012 Jun 7.

Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, ..., Klaver CC Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet. 2012 Sep;131(9):1467-80.

Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74.

van Koolwijk LM, Ramdas WD, ..., Young TL, ..., van Duijn CM. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet. 2012;8(5):e1002611. Epub 2012 May 3.

Tran-Viet KN, St Germain E, Soler V, Powell C, Lim SH, Klemm T, Saw SM, Young TL. Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Mol Vis. 2012;18:937-44. Epub 2012 Apr 12.

Abbott D, Li YJ, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, Rosenberg T, Paget S, Zayats T, Mackey DA, Feng S, Young TL An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis. 2012;18:720-9. Epub 2012 Mar 26.

Contact at:
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
Phone: 1-919-684-1808
Fax: 1-919-684-0906
E-mail: terri.young@duke.edu

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