Bart P. Leroy, MD, PhD

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Bart P. Leroy, MD, PhD, is director of the Ophthalmic Genetics and Retinal Degenerations clinics in the Division of Ophthalmology and Center for Cellular and Molecular Therapeutics at The Children's Hospital of Philadelphia.

Areas of Expertise: Genetic ophthalmology, Retinal diseases, Visual electrophysiology, Retinal degeneration, Leber congenital amaurosis, Genetic retinal dysfunctions
Locations: Main Hospital

Phone: 215-590-2791

Background

Dr. Leroy completed his medical degree (MD), PhD in medical sciences, residencies in clinical genetics and Ophthalmology and a fellowship in medical retina and visual electrophysiology at Ghent University in Belgium. He also completed a fellowship in medical retina, inherited retinal diseases, visual electrophysiology and molecular genetics at Moorfields Eye Hospital & Institute of Ophthalmology in London. Dr. Leroy is an associate professor of Ophthalmic Genetics and Visual Electrophysiology at Ghent University.

As director of the Ophthalmic Genetics and Retinal Degenerations clinics at The Children's Hospital of Philadelphia, Dr. Leroy’s clinical focus is diagnosis and treatment of patients with inherited retinal and eye diseases including Leber congenital amaurosis, Stargardt disease, retinitis pigmentosa, and various other genetic syndromes and anomalies. In collaboration with the team of Drs. Jean Bennett, Albert M. Maguire and Katherine High, Dr. Leroy is involved in the ongoing gene therapy research work for inherited retinal blindness here at CHOP.

Dr. Leroy is past president for the European Organization for Vision & Eye Research, as well as a member of the International Society for Genetic Eye Disease & Retinoblastoma, the Société de la Génétique Ophtalmologique Francophone and the Academia Ophthalmologica Belgica.

Education and Training

Medical School

MD - Ghent University, Ghent, Belgium

Residency

Ophthalmology - Ghent University Hospital, Ghent, Belgium

Clinical Genetics - Ghent University Hospital, Ghent, Belgium

Fellowship

Visual Electrophysiology and Medical Retina - Ghent University Hospital, Ghent, Belgium

Inherited Retinal Dystrophies & Medical Retina - Moorfields Eye Hospital, London, UK

Research fellowship in Molecular Genetics - University College London, London, UK

Visual Electrophysiology -Moorfields Eye Hospital, London, UK

Graduate Degree

PhD in Medical Sciences - Ghent University, Ghent, Belgium

Titles and Academic Titles

Director, Ophthalmic Genetics and Retinal Degenerations

Attending Physician

Departments and Services

Research Interests

Inherited retinal dystrophies, clinical electrophysiology of vision, general medical retina & inherited ocular disease

Gene therapy for inherited retinal blindness

Publications

Papers

2019

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PMID: 31479473

2015

Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2015 Nov 1;56(12):7418-7426. doi: 10.1167/iovs.15-17920. PMID 26574802.

Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, Leroy BP. Colour Vision in Stargardt Disease. Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. Epub 2015 Oct 23. PMID: 26492201.

Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015 Oct 1. PMID: 26316326.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. PMID: 25983245.

Bral NO, Marinkovic M, Leroy BP, Hoornaert K, van Lint M, Ten Tusscher MP. Do not turn a blind eye to alkyl nitrite (poppers)! Acta Ophthalmol. 2015 May 14. doi: 10.1111/aos.12753. [Epub ahead of print] No abstract available. PMID: 25975842.

Lee H, Purohit R, Sheth V, McLean RJ, Kohl S, Leroy BP, Sundaram V, Michaelides M, Proudlock FA, Gottlob I. Retinal Development in Infants and Young Children with Achromatopsia. Ophthalmology. 2015 Oct;122(10):2145-7. doi: 10.1016/j.ophtha.2015.03.033. Epub 2015 May 9. No abstract available. PMID: 25972256.

AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693.

Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, Hauswirth WW, Heckenlively JR, Iannaccone A, Jayasundera KT, Khan NW, Molday RS, Pennesi ME, Reh TA, Weleber RG, Zacks DN; Monaciano Consortium. Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. Invest Ophthalmol Vis Sci. 2015 Feb 9;56(2):918-31. doi: 10.1167/iovs.14-16049. Review. PMID: 25667399.

Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716. PMID: 25346251.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28. PMID: 25168386.

2014

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. PMID: 25629076.

Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. Biochim Biophys Acta. 2014 Aug;1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4. PMID: 24796500.

Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014 Aug 1;23(15):4086-93. doi: 10.1093/hmg/ddu122. Epub 2014 Mar 31. PMID: 24688117.

Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. PMID: 24625443.

2013

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. J Invest Dermatol. 2014 Feb;134(2):568-71. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. No abstract available. PMID: 23985994.

Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. doi: 10.1161/ATVBAHA.113.301901. Epub 2013 Aug 22. PMID: 23968982.

Schauwvlieghe PP, Torre KD, Coppieters F, Van Hoey A, De Baere E, De Zaeytijd J, Leroy BP, Brodie SE. High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy. Retina. 2013 Nov-Dec;33(10):2118-25. doi: 10.1097/IAE.0b013e3182899274. PMID: 23619632.

Gliem M, Zaeytijd JD, Finger RP, Holz FG, Leroy BP, Charbel Issa P. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013 Apr 4;4:14. doi: 10.3389/fgene.2013.00014. eCollection 2013. PMID: 23577018.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. PMID: 23499059.

Terryn W, Vanholder R, Hemelsoet D, Leroy BP, Van Biesen W, De Schoenmakere G, Wuyts B, Claes K, De Backer J, De Paepe G, Fogo A, Praet M, Poppe B. Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT. JIMD Rep. 2013;8:101-8. doi: 10.1007/8904_2012_167. Epub 2012 Jul 29. PMID: 23430526.

Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16. PMID: 2335639.

Kasmi I, Delbeke P, Loyes B, Leroy BP. Lens subluxation with stretched ciliary processes in a girl with Goltz syndrome. Bull Soc Belge Ophtalmol. 2013;(322):77-82. PMID: 24923086.

Van Hoey A, Shah A, De Zaeytijd J, Van Den Broecke C, Decock C, Leroy BP. Bifocal optic and facial nerve t-cell lymphoma. Bull Soc Belge Ophtalmol. 2013;(322):63-9. PMID: 24923084.

Books

Chapters

Chapter 28 on “Bestrophinopathies” by BP Leroy in “Genetic Diseases of the Eye”, 2nd Edition, Edited by EI Traboulsi, Oxford University Press; ISBN-10: 0195326148; ISBN-13: 978-0195326147; Publication Date: December 29, 2011



Chapter 32 on “Congenital Stationary Night Blindness” by EI Traboulsi, BP Leroy, C Zeitz in “Genetic Diseases of the Eye”, 2nd Edition, Edited by EI Traboulsi, Oxford University Press; ISBN-10: 0195326148; ISBN-13: 978-0195326147; Publication Date: December 29, 2011

Editorial and Academic Positions

Editorial Positions

2010-present, Associate Editor for Retina, Acta Ophthalmologica

Leadership and Memberships

Memberships in Professional Organizations

Association for Research in Vision and Ophthalmology (ARVO)

Belgian Fluorescein Angiography Club (FAB)

Belgian Ophthalmological Society (BOG)

Belgian Society of Human Genetics (BeSHG)

European association for Vision and Eye Research (EVER)

European Paediatric Ophthalmological Society (EPOS)

International Fluorescein Angiography Club (FAN)

International Society for Clinical Electrophysiology of Vision (ISCEV)

International Society for Genetic Eye Disease & Retinoblastoma (ISGEDR)

International Society for Ocular Cell Biology (ISOCB)

Société de la Génétique Ophtalmologique Francophone (SGOF)

United Kingdom Eye Genetics Group (UK-EGG)