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
- MD, Harvard Medical School (Massachusetts), 1986
- Ophthalmology, University of Illinois–Chicago Eye and Ear Infirmary, 1987-1990
- 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
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
