Founding Director, Ophthalmic Genetics Pediatric Clinic

• Ophthalmology / Pediatric Ophthalmology and Strabismus Service
• Pediatrics / Ophthalmology

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 at Chicago Eye and Ear Infirmary, 1987-1990

• Pediatric Ophthalmology, University of 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

Representative Publications:
Zayats T, Young TL, Mackey DA, Malecaze F, Calvas P, Guggenheim JA. Quality of DNA extracted from mouthwashes. PLoS One. 2009;4(7):e6165. (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. Mol Vis. 2009;15:213-22. (2009) Abstract

Young TL. Molecular genetics of human myopia: an update. Optom Vis Sci. 2009 Jan;86(1):E8-E22. (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. Mol Vis. 2009;15:1028-35. (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. Am J Ophthalmol. 2009 Aug;148(2):235-241.e6. (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 Oct;54(4):788-95. (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. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3210-7. (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. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552-8. (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. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4080-6. (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 Res Hum Genet. 2009 Oct;12(5):441-54. (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. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3116-27. (2009) Abstract

Hornbeak DM, Young TL. Myopia genetics: a review of current research and emerging trends. Curr Opin Ophthalmol. 2009 Sep;20(5):356-62. (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. Br J Ophthalmol. 2009 Aug;93(8):997-1000. (2009) Abstract

Carbonaro F, Andrew T, Mackey D, Young TL, Spector T, Hammond CJ. Repeated measures of intraocular pressure result in a higher heritability and greater power in genetic linkage studies. Invest Ophthalmol Vis Sci. 2009 May 6. (2009) 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. Mol Vis. 2008;14:583-92. (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 Apr;22(4):598-9; author reply 599. (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. Mol Vis. 2008;14:2458-65. (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. Am J Med Genet A. 2008 Nov 1;146A(21):2794-8. (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. Mol Vis. 2008;14:387-93. (2008) 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 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. 2008 Dec 19. (2008) Abstract

Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophthalmol. 2007 Jan;125(1):38-48. (2007) 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. Mol Vis. 2007;13:229-36. (2007) Abstract

Zhou J, Rappaport EF, Tobias JW, Young TL. Differential gene expression in mouse sclera during ocular development. Invest Ophthalmol Vis Sci. 2006 May;47(5):1794-802. (2006) Abstract

Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42. (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. Arch Ophthalmol. 2006 Apr;124(4):552-7. (2006) Abstract

Johnson JM, Young TL, Rada JA. Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP. Mol Vis. 2006;12:1057-66. (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. J AAPOS. 2006 Dec;10(6):521-7. (2006) Abstract

Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS. 2006 Oct;10(5):435-44. (2006) Abstract

Egbert JE, Christiansen SP, Wright MM, Young TL, Summers CG. The natural history of glaucoma and ocular hypertension after pediatric cataract surgery. J AAPOS. 2006 Feb;10(1):54-7. (2006) Abstract

Zhou J, Young TL. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. Gene. 2005 Jun 6;352:10-9. (2005) Abstract

Scavello GS Jr, 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. Mol Vis. 2005 Feb 2;11:97-110. (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. Arch Dermatol. 2005 Dec;141(12):1567-73. (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. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2300-7. (2005) Abstract

Lawrence MG, Kramarevsky NY, Christiansen SP, Wright MM, Young TL, Summers CG. Glaucoma following cataract surgery in children: surgically modifiable risk factors. Trans Am Ophthalmol Soc. 2005;103:46-55. (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. Mol Vis. 2005 Jul 14;11:501-8. (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. Am J Med Genet A. 2005 May 15;135(1):96-8. (2005) Abstract

Heidary G, Ying GS, Maguire MG, Young TL. The association of astigmatism and spherical refractive error in a high myopia cohort. Optom Vis Sci. 2005 Apr;82(4):244-7. (2005) 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. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. (2005) Abstract

Young TL. Dissecting the genetics of human high myopia: a molecular biologic approach. Trans Am Ophthalmol Soc. 2004;102:423-45. (2004) Abstract

Young TL, Scavello GS, Paluru PC, Choi JD, Rappaport EF, Rada JA. Microarray analysis of gene expression in human donor sclera. Mol Vis. 2004 Mar 22;10:163-76. (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. Arch Ophthalmol. 2004 Jun;122(6):897-908. (2004) Abstract

Tamhankar MA, Liu GT, Young TL, Sutton LN, Hurst RW. Acquired, isolated third nerve palsies in infants with cerebrovascular malformations. Am J Ophthalmol. 2004 Sep;138(3):484-6. (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. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2091-7. (2004) Abstract

Paluru PC, Scavello GS, Ganter WR, Young TL. Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. Mol Vis. 2004 Nov 30;10:917-22. (2004) Abstract

Young TL. Ophthalmic genetics/inherited eye disease. Curr Opin Ophthalmol. 2003 Oct;14(5):296-303. (2003) Abstract

Young TL, Guo XD, King RA, Johnson JM, Rada JA. Identification of genes expressed in a human scleral cDNA library. Mol Vis. 2003 Oct 7;9:508-14. (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. Invest Ophthalmol Vis Sci. 2003 May;44(5):1830-6. (2003) Abstract

North PE, Anthony DC, Young TL, Waner M, Brown HH, Brodsky MC. Retinal neovascular markers in retinopathy of prematurity: aetiological implications. Br J Ophthalmol. 2003 Mar;87(3):275-8. (2003) 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. J Bone Miner Res. 2003 Oct;18(10):1740-7. (2003) Abstract

Jensen AA, Young TL. Inferior oblique muscle palsy following maxillectomy for squamous cell carcinoma. J AAPOS. 2002 Feb;6(1):51-3. (2002) Abstract

Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE. Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol. 2002 Aug;47(2 Suppl):S196-200. (2002) 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 Genet. 2001 Jun;22(2):69-75. (2001) Abstract

Engman JH, Egbert JE, Summers CG, Young TL. Efficacy of inferior oblique anterior transposition placement grading for dissociated vertical deviation. Ophthalmology. 2001 Nov;108(11):2045-50. (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. J Pediatr Ophthalmol Strabismus. 2000 May-Jun;37(3):149-55. (2000) 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. J AAPOS. 1999 Oct;3(5):295-302. (1999) 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 Res. 1999 Jun;12(3):187-92. (1999) 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. Am J Hum Genet. 1998 Jul;63(1):109-19. (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. Am J Hum Genet. 1998 Nov;63(5):1419-24. (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. Am J Med Genet. 1998 May 26;77(4):285-8. (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 Dec;19(18):3079-83. (1998) Abstract

McQuaid K, Young TL. Rigid gas permeable contact lens changes in the aphakic infant. CLAO J. 1998 Jan;24(1):36-40. (1998) 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. Binocul Vis Strabismus Q. 1998;13(3):188-92. (1998) Abstract

Young TL, Weis JR, Summers CG, Egbert JE. The association of strabismus, amblyopia, and refractive errors in spasmus nutans. Ophthalmology. 1997 Jan;104(1):112-7. (1997) Abstract

Young TL, Quinn GE, Baumgart S, Petersen RA, Schaffer DB. Extracorporeal membrane oxygenation causing asymmetric vasculopathy in neonatal infants. J AAPOS. 1997 Dec;1(4):235-40. (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. J AAPOS. 1997 Jun;1(2):105-10. (1997) Abstract

Cheung JC, Summers CG, Young TL. Myopia predicts better outcome in persistent hyperplastic primary vitreous. J Pediatr Ophthalmol Strabismus. 1997 May-Jun;34(3):170-6. (1997) Abstract

Young TL, Himelstein BP, Rebsamen SL, Ruchelli E, Quinn GE, Bunin N. Intraocular Ki-1 lymphoma in a 2-year-old boy. J Pediatr Ophthalmol Strabismus. 1996 Sep-Oct;33(5):268-70. (1996) Abstract

Quinn GE, Berlin JA, Young TL, Ziylan S, Stone RA. Association of intraocular pressure and myopia in children. Ophthalmology. 1995 Feb;102(2):180-5. (1995) Abstract

Young TL, Ziylan S, Schaffer DB. The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus. 1993 Jan-Feb;30(1):48-52. (1993) Abstract

Young TL, Schaffer DB, Cohen AR. Infantile glaucoma associated with the Diamond-Blackfan syndrome. J Pediatr Ophthalmol Strabismus. 1992 Jan-Feb;29(1):55-8. (1992) Abstract

Hertle RW, Katowitz JA, Young TL, Quinn GE, Farber MG. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology. 1992 Mar;99(3):347-55. (1992) Abstract

Young TL, Higginbotham EJ, Zou XL, Farber MD. Effects of topical glaucoma drugs on fistulized rabbit conjunctiva. Ophthalmology. 1990 Nov;97(11):1423-7. (1990) Abstract

Young TL, Büchi ER, Kaufman LM, Sugar J, Tso MO. Respiratory epithelium in a cystic choristoma of the limbus. Arch Ophthalmol. 1990 Dec;108(12):1736-9. (1990) Abstract

Young TL, Robin JB, Holland GN, Hendricks RL, Paschal JF, Engstrom RE Jr, Sugar J. Herpes simplex keratitis in patients with acquired immune deficiency syndrome. Ophthalmology. 1989 Oct;96(10):1476-9. (1989) Abstract

Joondeph BC, Young TL, Saran BR. Multiple scleral ruptures after blunt ocular trauma. Am J Ophthalmol. 1989 Dec 15;108(6):744. (1989) Abstract