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, Ronan S, Alvear A, Drahozal L, Wildenberg SC, Oetting WS, Atwood L, Wilkin, D, King R. Evidence that a locus for familial high myopia maps to chromosome 18p. American Journal of Human Genetics 1998; 63:109-119.

Young TL, Ronan S, Alvear A, Wildenberg SC, Oetting WS, Atwood L, Wilkin D, King RA. A second locus for familial high myopia on chromosome 12q. American Journal of Human Genetics 1998; 63:1419-1424.

Oetting WS, Armstrong-Jacobs CM, Ronan SM, Young TL, Sellers TA, King RA. Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using infrared fluorescence and M13 tailed primers. Electrophoresis 1998, 19,3079-3083.

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.

Paluru P, Heon E, Devoto M, Ronan SM, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL. A new locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 2003; 44:1830-1836.

Young TL, Guo XD, Scavello G, Johnson J, King RA, Rada JA. Identification of genes expressed in a human scleral cDNA library. Mol Vis 2003; 9:508-514.

Young TL. Ophthalmic genetics/Inherited eye disease Current Opinion in Ophthalmology 2003;14(5):296-303.

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;45(7):2091-2097.

Young TL, Ronan SM, Alvear AB, Peterson JM, Deeb S, Motulsky A, Dewan AT, Holleschau AM, Hayashi T, Benangas N, Schwartz M, Rosenberg T, Atwood LD, Oetting WS, King RA. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol, Jun 2004;122:897-908.

Young TL, Scavello G, Paluru P, Choi J, Rappaport EF, Rada JA. Microarray analysis of gene expression in human donor sclera. Mol Vis 2004;10:163-76.

Paluru PC, Scavello GS, Ganter W, Young TL. Exclusion of Lumican and Fibromodulin as candidate genes in MYP3-linked high-grade myopia. Mol Vis 2004;10:917-922.

Young TL. Dissecting the genetics of human high myopia: A molecular biologic approach. Trans Am Ophthalmol Soc 2004;52:432-446.

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. Mol Vis 2005; 11:97-110.

Heidary G, Ying G-S, Maguire MG, Young TL. The impact of sphere on cylinder type and severity in a high myopia cohort. Optometry and Vision Science 2005;82(4):244-247.

Zhou J, Young TL. Evaluation of LIPIN2 as a candidate gene for autosomal dominant 1 high-grade. myopia Gene. 2005;352:10-19.

Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL. (2005) Identification of a novel locus on chromosome 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 2005;46(7):2300-2307.

Zhou J, Rappaport EF, Tobias JW, Young TL. Differential gene expression in mouse sclera during ocular development. Invest Ophthalmol Vis Sci 2006;47(5):1794-1802.

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

Young TL, Metlapally R, Shay A. Complex trait genetics of refractive error. Arch Ophthalmol 2007; 125 (1):38-48. 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.

Contact at:
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
Phone: 1-919-681-5675
Fax: 1-919-684-0906
E-mail: young125@chg.duhs.duke.edu

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