Terri L. Young

Position title: Professor

Email: tyoung6@wisc.edu

Ophthalmology and Visual Sciences
Ophthalmic genetics, refractive error genetics, and pediatric ophthalmology clinical studies

2828 Marshall Court, Suite 200, Madison WI 53705
Ophthalmology and Visual Sciences
Research Interests
Ophthalmic genetics, refractive error genetics, and pediatric ophthalmology clinical studies
Research Fields
Ophthalmic Genetics Pediatric, Ophthalmology

Research Description:
I am a clinician-scientist (pediatric ophthalmologist), and my research laboratory has held a funded research campaign for 18 years to determine the biological basis of high-grade myopia with its associated ocular co-morbidities of increased risk of premature cataracts, glaucoma, and retinal detachment, collaborating internationally to do so. We have performed mapping, association studies, and next generation sequencing studies, and have identified several loci and genes involved with myopia. We have funding for a multi-expert collaborative network to merge human myopia genetic data with that of a reproducible animal model of myopia. I am an executive member of the Consortium for Refractive Error and Myopia international genetics group. Additionally, we have the research machinery and collaborative network in place to perform gene mutation identification and animal modeling for a variety of other ocular inherited disorders, and in particular primary congenital glaucoma (PCG). We have a large cohort of collected PCG family DNA samples and phenotypes to use to determine the genetic basis of this heterogeneous disorder. We are also a member of a multi-expert collaborative network studying glaucoma genetics, the International Glaucoma Genetics Consortium. In addition to the above, our lab has identified multiple gene mutations for a diverse array of heritable ocular conditions from corneal dystrophies, to developmental eye disorders that cause a smaller eye to form (microphthalmia), to retinal degenerations. We have developed animal models for many of them and are pursuing treatment strategies that will be translatable to humans.

Representative Publications:
Search PubMed for more publications by Terri L. Young

Hysi PG, Mahroo OA, Cumberland P, Wojciechowski R, Williams KM, Young TL, Mackey DA, Rahu JS, Hammond CJ. Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmology. 2013 Nov 21. [Epub ahead of print] PMID: 24264139

Guggenheim JA, McMahon G, Northstone K, Mandel Y, Kaiserman I, Stone RA, Lin X, Saw SM, Forward H, Mackey DA, Yazar S, Young TL, Williams C. Birth order and myopia. Ophthalmic Epidemiology. 2013 Dec 20(6): 375-84. PMID: 24168726.

Lim SH, St. Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, NadingEB, CroweS, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia. Ophthalmic Genetics. 2014 Mar; 35 (1):1-6.

Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, Young TL, Hammond CJ, Hewitt AW, Mackey DA. What is the appropriate age cut-off for cylcoplegia in refraction? Acta Ophthalmol 2014 Sep; 92(6):e458-62. doi: 10.1111/aos.12388. Epub 2014 Mar 19.

McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, Hewitt AW, Pennell CE, McAllister IL, Young TL, Coroneo MT, Mackey DA. Myopia in young adults is inversely related to an objective marker of ocular sun exposure: the Western Australian Raine cohort bbaacctteerriiaa cc.. eelleeggaannss ddrroossoopphhiillaa fungii human mmoouussee aanndd rraatt ppllaannttss zzeebbrraaffiisshh cceellll bbiioollooggyy ccoommppuuttaattiioonnaall ddeevveellooppmmeenntt ddiisseeaassee eevvoolluuttiioonn aanndd ppooppuullaattiioonn ggeenneettiicc eexxpprreessssiioonn ggeennoommiiccss neuro study. Am J Ophthalmol. 2014 Nov; 158(5):1079-85. doi: 10.1016/j.ajo.2014.07.033. Epub 2014 Jul 26. PMID: 25072831

Fan Q, Guo X, Tideman JW, Williams KM, Yazar S, Hosseini SM, Howe LD, Pourcain BS, Evans DM, Timpson NJ, McMahon G, Hysi PG, Krapohl E, Wang YX, Jonas JB, Baird PN, Wang JJ, Cheng CY, Teo YY, Wong TY, Ding X, Wojciechowski R, Young TL, Pärssinen O, Oexle K, Pfeiffer N, Bailey-Wilson JE, Paterson AD, Klaver CC, Plomin R, Hammond CJ, Mackey DA, He M, Saw SM, Williams C, Guggenheim JA; CREAM Consortium. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Sci Rep. 2016 May 13;6:25853. doi: 10.1038/srep25853. PMID: 27174397

Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. Journal of Clinical Investigation. 2016 Jun 6. pii: 85830. doi: 10.1172/JCI85830. [Epub ahead of print] PMID: 27270174

Kuo AN, Verkicharla PK, McNabb RP, Cheung CY, Hilal S, Farsiu S, Chen C, Wong TY, Ikram MK, Cheng CY, Young TL, Saw SM, Izatt JA. Posterior Eye Shape Measurement with Retinal OCT Compared to MRI. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9): OCT196-203. doi: 10.1167/iovs.15-18886. PMID: 27409473

Tkatchenko AV, Luo X, Tkatchenko TV, Vaz C, Tanavde VM, Maurer-Stroh S, Zauscher S, Gonzalez P, Young TL. Large-Scale microRNA Expression Profiling Identifies Putative Retinal miRNA-mRNA Signaling Pathways Underlying Form-Deprivation Myopia in Mice. PLoS One. 2016 Sep 13;11(9):e0162541. doi: 10.1371/journal.pone.0162541. eCollection 2016. PMID: 27622715

Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone ED, Johnson M, Young TL. Reduced penetrance in a large Caucasian pedigree