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Physicians

Terri L. Young, MD

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  • Duke Eye Center at Page Road

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  • Genetic Ophthalmology: Comprehensive Care for Congenital Eye Conditions
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Terri L. Young, MD

Founding Director, Ophthalmic Genetics Pediatric Clinic

Departments / Divisions
  • Ophthalmology / Pediatric Ophthalmology
  • Medicine / Medicine-Section of Medical Genetics
  • Pediatrics

Address
DUMC 3802
Durham, NC 27710

Appointment Telephone
919-681-3937

Fax Telephone
919-684-6096

Training
  • MD, Harvard Medical School (Massachusetts), 1986

Residency
  • Ophthalmology, University of Illinois–Chicago Eye and Ear Infirmary, 1987-1990

Fellowship
  • Pediatric Ophthalmology, Children's Hospital of Philadelphia (Pennsylvania), 1990-1992

Clinical Interests
Ophthalmic genetics, pediatric eye disease including pediatric cataracts, surgical correction of strabismus in children and adults

Research Interests
Myopia (nearsightedness) is a potentially blinding eye condition, and is the most common human eye disorder. Genetic studies of high-grade myopia- primarily performed by members of this consortium- are promising but 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 high-grade myopia versus that of moderate myopia. The goal of my research is to gain a greater understanding of the molecular genetic basis of high-grade myopia. My research program was initially based on large-pedigree, family-based Mendelian trait myopia genetics in the United States, but in recent years has expanded to include international collaborations in Europe with other family studies, and twin studies. More recently we now have collaborative projects studying refractive error genetics in large case-control and population studies in Singapore.

I 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

Industry Relationships and Collaborations (What's this?)

This faculty member has no reported relationships with industry.

Representative Publications
Carbonaro, F; Andrew, T; Mackey, DA; Young, TL; Spector, TD; Hammond, CJ. Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies. Investigative Ophthalmology and Visual Science. 2009;50:5115-5119. (2009) Abstract

Dirani, M; Tong, L; Gazzard, G; Zhang, X; Chia, A; Young, TL; Rose, KA; Mitchell, P; Saw, SM. Outdoor activity and myopia in Singapore teenage children. British Journal of Ophthalmology. 2009;93:997-1000. (2009) Abstract

Hornbeak, DM; Young, TL. Myopia genetics: a review of current research and emerging trends. Current Opinion in Ophthalmology. 2009;20:356-362. (2009) Abstract

Li, YJ; 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, DA; Young, TL. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Investigative Ophthalmology and Visual Science. 2009;50:3116-3127. (2009) Abstract

Mackey, DA; Mackinnon, JR; Brown, SA; Kearns, LS; Ruddle, JB; Sanfilippo, PG; Sun, C; Hammond, CJ; 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. 2009;12:441-454. (2009) Abstract

Metlapally, R; Li, YJ; Tran-Viet, KN; Abbott, D; Czaja, GR; Malecaze, F; Calvas, P; Mackey, D; Rosenberg, T; Paget, S; Zayats, T; Owen, MJ; Guggenheim, JA; Young, TL. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative Ophthalmology and Visual Science. 2009;50:4080-4086. (2009) Abstract

Metlapally, R; Michaelides, M; Bulusu, A; Li, YJ; Schwartz, M; Rosenberg, T; Hunt, DM; Moore, AT; Züchner, S; Rickman, CB; Young, TL. Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Investigative Ophthalmology and Visual Science. 2009;50:1552-1558. (2009) Abstract

Rice, A; Nsengimana, J; Simmons, IG; Toomes, C; Hoole, J; Willoughby, CE; 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. Investigative Ophthalmology and Visual Science. 2009;50:3210-3217. (2009) Abstract

Sun, C; Zhu, G; Wong, TY; Hewitt, AW; Ruddle, JB; Hodgson, L; Montgomery, GW; Young, TL; Hammond, CJ; Craig, JE; Martin, NG; He, M; Mackey, DA. Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study. Hypertension. 2009;54:788-795. (2009) Abstract

Trager, MJ; Dirani, M; Fan, Q; Gazzard, G; Selvaraj, P; Chia, A; Wong, TY; Young, TL; Varma, R; Saw, SM. Testability of vision and refraction in preschoolers: the strabismus, amblyopia, and refractive error study in singaporean children. American Journal of Ophthalmology. 2009;148:235-241.e6. (2009) Abstract

Yanovitch, T; Li, YJ; Metlapally, R; Abbott, D; Viet, KN; Young, TL. Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. Molecular Vision. 2009;15:1028-1035. (2009) Abstract

Young, TL. Molecular genetics of human myopia: an update. Optometry and Vision Science. 2009;86:E8-E22. (2009) Abstract

Zayats, T; Yanovitch, T; Creer, RC; McMahon, G; Li, YJ; Young, TL; Guggenheim, JA. Myocilin polymorphisms and high myopia in subjects of European origin. Molecular Vision. 2009;15:213-222. (2009) Abstract

Zayats, T; Young, TL; Mackey, DA; Malecaze, F; Calvas, P; Guggenheim, JA. Quality of DNA extracted from mouthwashes. PLoS One. 2009;4:e6165. (2009) Abstract

McBrien, NA; Young, TL; Pang, CP; Hammond, C; Baird, P; Saw, SM; Morgan, IG; Mutti, DO; Rose, KA; Wallman, J; Gentle, A; Wildsoet, CF; Gwiazda, J; Schmid, KL; Smith, E; 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. Optometry and Vision Science. 2008; (2008) Abstract

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

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. American Journal of Medical Genetics Part A. 2008;146A:2794-2798. (2008) Abstract

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

Zayats, T; Guggenheim, JA; Hammond, CJ; Young, TL. Comment on 'A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia'. Eye. 2008;22:598-599. (2008) Abstract

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. Molecular Vision. 2008;14:583-592. (2008) Abstract

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. Molecular Vision. 2007;13:229-236. (2007) Abstract

Young, TL; Metlapally, R; Shay, AE. Complex trait genetics of refractive error. Archives of Ophthalmology. 2007;125:38-48. (2007) Abstract

Egbert, JE; Christiansen, SP; Wright, MM; Young, TL; Summers, CG. The natural history of glaucoma and ocular hypertension after pediatric cataract surgery. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2006;10:54-57. (2006) Abstract

Jadico, SK; Huebner, A; McDonald-McGinn, DM; Zackai, EH; Young, TL. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2006;10:435-444. (2006) Abstract

Jadico, SK; Young, DA; Huebner, A; Edmond, JC; Pollock, AN; McDonald-McGinn, DM; Li, YJ; Zackai, EH; Young, TL. Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2006;10:521-527. (2006) Abstract

Johnson, JM; Young, TL; Rada, JA. Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP. Molecular Vision. 2006;12:1057-1066. (2006) Abstract

Nallasamy, S; Kherani, F; Yaeger, D; McCallum, J; Kaur, M; Devoto, M; Jackson, LG; Krantz, ID; Young, TL. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Archives of Ophthalmology. 2006;124:552-557. (2006) Abstract

Roberts, A; Allanson, J; Jadico, SK; Kavamura, MI; Noonan, J; Opitz, JM; Young, T; Neri, G. The cardiofaciocutaneous syndrome. Journal of Medical Genetics. 2006;43:833-842. (2006) Abstract

Zhou, J; Rappaport, EF; Tobias, JW; Young, TL. Differential gene expression in mouse sclera during ocular development. Investigative Ophthalmology and Visual Science. 2006;47:1794-1802. (2006) Abstract

Descipio, C; Schneider, L; Young, TL; Wasserman, N; Yaeger, D; Lu, F; Wheeler, PG; Williams, MS; Bason, L; Jukofsky, L; Menon, A; Geschwindt, R; Chudley, AE; Saraiva, J; Schinzel, AA; Guichet, A; Dobyns, WE; Toutain, A; Spinner, NB; Krantz, ID. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics Part A. 2005;134A:3-11. (2005) Abstract

Heidary, G; Ying, GS; Maguire, MG; Young, TL. The association of astigmatism and spherical refractive error in a high myopia cohort. Optometry and Vision Science. 2005;82:244-247. (2005) Abstract

Hoffman, JD; Jacobson, Z; Young, TL; Marshall, JD; Kaplan, P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. American Journal of Medical Genetics Part A. 2005;135:96-98. (2005) Abstract

Hutcheson, KA; Paluru, PC; Bernstein, SL; Koh, J; Rappaport, EF; Leach, RA; Young, TL. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Molecular Vision. 2005;11:501-508. (2005) Abstract

Lawrence, MG; Kramarevsky, NY; Christiansen, SP; Wright, MM; Young, TL; Summers, CG. Glaucoma following cataract surgery in children: surgically modifiable risk factors. Transactions of the American Ophthalmological Society. 2005;103:46-55. (2005) Abstract

Paluru, PC; Nallasamy, S; Devoto, M; Rappaport, EF; Young, TL. Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Investigative Ophthalmology and Visual Science. 2005;46:2300-2307. (2005) Abstract

Payne, AS; Yan, AC; Ilyas, E; Li, W; Seykora, JT; Young, TL; Pawel, BR; Honig, PJ; Camacho, J; Imaizumi, S; Heymann, WR; Schnur, RE. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. Archives of Dermatology. 2005;141:1567-1573. (2005) Abstract

Scavello, GS; Paluru, PC; Zhou, J; White, PS; Rappaport, EF; Young, TL. Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. Molecular Vision. 2005;11:97-110. (2005) Abstract

Zhou, J; Young, TL. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. Gene. 2005;352:10-19. (2005) Abstract

Paluru, PC; Scavello, GS; Ganter, WR; Young, TL. Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. Molecular Vision. 2004;10:917-922. (2004) Abstract

Scavello, GS; Paluru, PC; Ganter, WR; Young, TL. Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Investigative Ophthalmology and Visual Science. 2004;45:2091-2097. (2004) Abstract

Tamhankar, MA; Liu, GT; Young, TL; Sutton, LN; Hurst, RW. Acquired, isolated third nerve palsies in infants with cerebrovascular malformations. American Journal of Ophthalmology. 2004;138:484-486. (2004) Abstract

Young, TL. Dissecting the genetics of human high myopia: a molecular biologic approach. Transactions of the American Ophthalmological Society. 2004;102:423-445. (2004) Abstract

Young, TL; Deeb, SS; Ronan, SM; Dewan, AT; Alvear, AB; Scavello, GS; Paluru, PC; Brott, MS; Hayashi, T; Holleschau, AM; Benegas, N; Schwartz, M; Atwood, LD; Oetting, WS; Rosenberg, T; Motulsky, AG; King, RA. X-linked high myopia associated with cone dysfunction. Archives of Ophthalmology. 2004;122:897-908. (2004) Abstract

Young, TL; Scavello, GS; Paluru, PC; Choi, JD; Rappaport, EF; Rada, JA. Microarray analysis of gene expression in human donor sclera. Molecular Vision. 2004;10:163-176. (2004) Abstract

Frattini, A; Pangrazio, A; Susani, L; Sobacchi, C; Mirolo, M; Abinun, M; Andolina, M; Flanagan, A; Horwitz, EM; Mihci, E; Notarangelo, LD; Ramenghi, U; Teti, A; Van Hove, J; Vujic, D; Young, T; Albertini, A; Orchard, PJ; Vezzoni, P; Villa, A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Journal of Bone and Mineral Research. 2003;18:1740-1747. (2003) Abstract

North, PE; Anthony, DC; Young, TL; Waner, M; Brown, HH; Brodsky, MC. Retinal neovascular markers in retinopathy of prematurity: aetiological implications. British Journal of Ophthalmology. 2003;87:275-278. (2003) Abstract

Paluru, P; Ronan, SM; Heon, E; Devoto, M; Wildenberg, SC; Scavello, G; Holleschau, A; Mäkitie, O; Cole, WG; King, RA; Young, TL. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Investigative Ophthalmology and Visual Science. 2003;44:1830-1836. (2003) Abstract

Young, TL. Ophthalmic genetics/inherited eye disease. Current Opinion in Ophthalmology. 2003;14:296-303. (2003) Abstract

Young, TL; Guo, XD; King, RA; Johnson, JM; Rada, JA. Identification of genes expressed in a human scleral cDNA library. Molecular Vision. 2003;9:508-514. (2003) Abstract

Ahmed, I; Tope, WD; Young, TL; Miller, DM; Bloom, KE. Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. Journal of the American Academy of Dermatology. 2002;47:S196-S200. (2002) Abstract

Jensen, AA; Young, TL. Inferior oblique muscle palsy following maxillectomy for squamous cell carcinoma. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2002;6:51-53. (2002) Abstract

Engman, JH; Egbert, JE; Summers, CG; Young, TL. Efficacy of inferior oblique anterior transposition placement grading for dissociated vertical deviation. Ophthalmology. 2001;108:2045-2050. (2001) Abstract

Young, TL; Atwood, LD; Ronan, SM; Dewan, AT; Alvear, AB; Peterson, J; Holleschau, A; King, RA. Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmic Genetics. 2001;22:69-75. (2001) Abstract

Young, TL; Conahan, BM; Summers, CG; Egbert, JE. Anterior transposition of the superior oblique tendon in the treatment of oculomotor nerve palsy and its influence on postoperative hypertropia. Journal of Pediatric Ophthalmology and Strabismus. 2000;37:149-155. (2000) Abstract

Tripathi, RK; Flanders, DJ; Young, TL; Oetting, WS; Ramaiah, A; King, RA; Boissy, RE; Nordlund, JJ. Microphthalmia-associated transcription factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation. Pigment Cell and Melanoma Research. 1999;12:187-192. (1999) Abstract

Young, TL; Bloom, JN; Ruttum, M; Sprunger, DT; Weinstein, JM. The IOLAB, Inc pediatric intraocular lens study. AAPOS Reasearch Committee. American Association for Pediatric Ophthalmology and Strabismus. Journal of American Association for Pediatric Ophthalmology and Strabismus. 1999;3:295-302. (1999) Abstract

Kushner, BJ; Arthur, BW; Mazow, ML; Medow, NB; Young, TL. Grand rounds #51: a case of consecutive exotropia after medial rectus recession for Duane syndrome. Binocular Vision and Strabismus Quarterly. 1998;13:188-192. (1998) Abstract

McQuaid, K; Young, TL. Rigid gas permeable contact lens changes in the aphakic infant. Eye and Contact Lens: science and clinical practice. 1998;24:36-40. (1998) Abstract

Oetting, WS; Armstrong, CM; Ronan, SM; Young, TL; Sellers, TA; King, RA. Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection. Electrophoresis. 1998;19:3079-3083. (1998) Abstract

Weigel, BJ; Pierpont, ME; Young, TL; Mutchler, SB; Neglia, JP. Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. American Journal of Medical Genetics Part A. 1998;77:285-288. (1998) Abstract

Young, TL; Ronan, SM; Alvear, AB; Wildenberg, SC; Oetting, WS; Atwood, LD; Wilkin, DJ; King, RA. A second locus for familial high myopia maps to chromosome 12q. American Journal of Human Genetics. 1998;63:1419-1424. (1998) Abstract

Young, TL; Ronan, SM; Drahozal, LA; Wildenberg, SC; Alvear, AB; Oetting, WS; Atwood, LD; Wilkin, DJ; King, RA. Evidence that a locus for familial high myopia maps to chromosome 18p. American Journal of Human Genetics. 1998;63:109-119. (1998) Abstract

Cheung, JC; Summers, CG; Young, TL. Myopia predicts better outcome in persistent hyperplastic primary vitreous. Journal of Pediatric Ophthalmology and Strabismus. 1997;34:170-176. (1997) Abstract

Young, TL; Anthony, DC; Pierce, E; Foley, E; Smith, LE. Histopathology and vascular endothelial growth factor in untreated and diode laser-treated retinopathy of prematurity. Journal of American Association for Pediatric Ophthalmology and Strabismus. 1997;1:105-110. (1997) Abstract

Young, TL; Quinn, GE; Baumgart, S; Petersen, RA; Schaffer, DB. Extracorporeal membrane oxygenation causing asymmetric vasculopathy in neonatal infants. Journal of American Association for Pediatric Ophthalmology and Strabismus. 1997;1:235-240. (1997) Abstract

Young, TL; Weis, JR; Summers, CG; Egbert, JE. The association of strabismus, amblyopia, and refractive errors in spasmus nutans. Ophthalmology. 1997;104:112-117. (1997) Abstract

Young, TL; Himelstein, BP; Rebsamen, SL; Ruchelli, E; Quinn, GE; Bunin, N. Intraocular Ki-1 lymphoma in a 2-year-old boy. Journal of Pediatric Ophthalmology and Strabismus. 1996;33:268-270. (1996) Abstract

Quinn, GE; Berlin, JA; Young, TL; Ziylan, S; Stone, RA. Association of intraocular pressure and myopia in children. Ophthalmology. 1995;102:180-185. (1995) Abstract

Young, TL; Ziylan, S; Schaffer, DB. The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. Journal of Pediatric Ophthalmology and Strabismus. 1993;30:48-52. (1993) Abstract

Hertle, RW; Katowitz, JA; Young, TL; Quinn, GE; Farber, MG. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology. 1992;99:347-355. (1992) Abstract

Young, TL; Schaffer, DB; Cohen, AR. Infantile glaucoma associated with the Diamond-Blackfan syndrome. Journal of Pediatric Ophthalmology and Strabismus. 1992;29:55-58. (1992) Abstract

Young, TL; Büchi, ER; Kaufman, LM; Sugar, J; Tso, MO. Respiratory epithelium in a cystic choristoma of the limbus. Archives of Ophthalmology. 1990;108:1736-1739. (1990) Abstract

Young, TL; Higginbotham, EJ; Zou, XL; Farber, MD. Effects of topical glaucoma drugs on fistulized rabbit conjunctiva. Ophthalmology. 1990;97:1423-1427. (1990) Abstract

Joondeph, BC; Young, TL; Saran, BR. Multiple scleral ruptures after blunt ocular trauma. American Journal of Ophthalmology. 1989;108:744. (1989) Abstract

Young, TL; Robin, JB; Holland, GN; Hendricks, RL; Paschal, JF; Engstrom, RE; Sugar, J. Herpes simplex keratitis in patients with acquired immune deficiency syndrome. Ophthalmology. 1989;96:1476-1479. (1989) Abstract

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Updated: Dec. 1, 2010
Published: Dec. 12, 2006
URL: http://www.dukehealth.org/physicians/terri_l_young