Successes

Core Faculty

Terri L. Young, MD, is a Professor of Ophthalmology and Pediatrics who specializes in the medical and surgical management of pediatric eye disorders and adult/childhood strabismus (eye misalignment). 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, and the College of Philadelphia Physicians.

Education
Harvard Medical School
University of Illinois, Chicago
Pediatric Ophthalmology and Strabismus, University of Pennsylvania
Sabbatical in Ophthalmic Genetics, Johns Hopkins Wilmer Eye Institute

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. [Epub ahead of print]

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 50:3210-3217.

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. In press, American Journal of Ophthalmology.

Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL. Novel Base-Pair Mutation of the CSPG2 Gene in a Family with Wagner Syndrome Suggests a Mutational Hot-Spot. In press, Archives of Ophthalmology

Contact at:
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
Phone: 1-919-684-1808
Fax: 1-919-684-0906
E-mail: young125@chg.duhs.duke.edu

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