Bart P Leroy

Bart P Leroy

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Bart P Leroy

Bart P Leroy

Publications by authors named "Bart P Leroy"

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Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.

Ophthalmology 2019 Sep 22;126(9):1273-1285. Epub 2019 Jun 22.

Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Center for Cellular and Molecular Therapeutics, Inc., Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.ophtha.2019.06.017DOI Listing
September 2019

Ocular involvement in systemic sclerosis: A systematic literature review, it's not all scleroderma that meets the eye.

Semin Arthritis Rheum 2019 08 28;49(1):119-125. Epub 2018 Dec 28.

Department of Internal Medicine, Ghent University, Corneel Heymanslaan 10, 9000 Ghent, Belgium; Department of Rheumatology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium; Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Center (IRC), Corneel Heymanslaan 10, 9000 Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.semarthrit.2018.12.007DOI Listing
August 2019

Abetalipoproteinemia From Previously Unreported Gene Mutations.

Ann Intern Med 2019 02 6;170(3):211-213. Epub 2018 Nov 6.

Ghent University Hospital and Ghent University, Ghent, Belgium (X.A., B.P.L., S.S.).

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http://dx.doi.org/10.7326/L18-0358DOI Listing
February 2019

CUGC for congenital primary aphakia.

Eur J Hum Genet 2018 08 16;26(8):1234-1237. Epub 2018 May 16.

UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1038/s41431-018-0171-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057980PMC
August 2018

Is oral moxifloxacin associated with bilateral acute iris transillumination?

Acta Ophthalmol 2018 Jun 25;96(4):e547-e548. Epub 2017 Oct 25.

Department of Ophthalmology, Middelheim General Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1111/aos.13558DOI Listing
June 2018

The importance of genetic testing as demonstrated by two cases of -associated retinal generation misdiagnosed as LCA.

Mol Vis 2017 10;23:695-706. Epub 2017 Oct 10.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640518PMC
April 2018

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Acta Ophthalmol 2018 Feb 5;96(1):e87-e91. Epub 2017 Jul 5.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.

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http://dx.doi.org/10.1111/aos.13484DOI Listing
February 2018

Unilateral cancer-associated retinopathy: diagnosis, serology and treatment.

Doc Ophthalmol 2017 12 16;135(3):233-240. Epub 2017 Aug 16.

Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1007/s10633-017-9605-yDOI Listing
December 2017

Isolated maculopathy associated with biallelic CRB1 mutations.

Ophthalmic Genet 2017 Mar-Apr;38(2):190-193. Epub 2016 Apr 20.

a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.

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http://dx.doi.org/10.3109/13816810.2016.1155225DOI Listing
November 2017

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944PMC
June 2017

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Sci Rep 2017 06 16;7(1):3702. Epub 2017 Jun 16.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41598-017-02434-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876PMC
June 2017

Diplopia as presenting sign of Turcot syndrome.

Int Ophthalmol 2017 Feb 3;37(1):275-278. Epub 2016 May 3.

Department of Ophthalmology, Ghent University Hospital & Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1007/s10792-016-0246-zDOI Listing
February 2017

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.

Ophthalmic Genet 2016 12 30;37(4):445-452. Epub 2016 Mar 30.

a Scheie Eye Institute and Perelman Center for Advanced Medicine, University of Pennsylvania , Philadelphia , Pennsylvania , USA.

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http://dx.doi.org/10.3109/13816810.2015.1126616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149010PMC
December 2016

DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.

Retina 2016 Nov;36(11):2227-2235

Departments of *Ophthalmology, †Pediatric Nephrology, and ‡Nephrology, Ghent University Hospital, Ghent, Belgium; §Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; and ¶Division of Ophthalmology and Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1097/IAE.0000000000001058DOI Listing
November 2016

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

Lancet 2016 Aug 30;388(10045):661-72. Epub 2016 Jun 30.

Center for Advanced Retinal and Ocular Therapeutics, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/S0140-6736(16)30371-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351775PMC
August 2016

Colour Vision in Stargardt Disease.

Ophthalmic Res 2015 23;54(4):181-94. Epub 2015 Oct 23.

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1159/000438906DOI Listing
June 2016

Do not turn a blind eye to alkyl nitrite (poppers)!

Acta Ophthalmol 2016 Feb 14;94(1):e82-3. Epub 2015 May 14.

Department of Ophthalmology, University Hospital Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1111/aos.12753DOI Listing
February 2016

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7875-87

Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 3Division of Ophthalmology, The Children's Hospital of.

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http://dx.doi.org/10.1167/iovs.15-17857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682491PMC
December 2015

Retinal Development in Infants and Young Children with Achromatopsia.

Ophthalmology 2015 Oct 9;122(10):2145-7. Epub 2015 May 9.

The University of Leicester Ulverscroft Eye Unit, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582068PMC
October 2015

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712PMC
January 2015

Birdshot-like chorioretinopathy in common variable immunodeficiency.

Retin Cases Brief Rep 2012 ;6(4):358-64

*Department of Ophthalmology †Center for Medical Genetics ‡Department of Hematology §Department of Pathology ¶Department of Pediatrics, Unit of Pediatric Pneumology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1097/ICB.0b013e31824f71c8DOI Listing
November 2014

Abnormal retinal development associated with FRMD7 mutations.

Hum Mol Genet 2014 Aug 31;23(15):4086-93. Epub 2014 Mar 31.

Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK

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http://dx.doi.org/10.1093/hmg/ddu122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082370PMC
August 2014

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy.

Retina 2013 Nov-Dec;33(10):2118-25

*Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium; †Department of Ophthalmology, Mount Sinai Medical Center, New York, New York; ‡Bannett Eye Center, Woodbury, New Jersey; and §Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1097/IAE.0b013e3182899274DOI Listing
March 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Arterioscler Thromb Vasc Biol 2013 Nov 22;33(11):2646-52. Epub 2013 Aug 22.

From the Center for Medical Genetics (L.C., O.M.V., B.P.L., A.D.P., J.D.B.), Department of Cardiology (T.D.B., J.D.B.), Department of Ophthalmology (B.P.L., J.D.Z.), and Department of Internal Medicine (D.V.), Ghent University Hospital, Ghent, Belgium; and Institute of Biomedical Technology, Ghent University, Ghent, Belgium (B.T., P.S.).

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http://dx.doi.org/10.1161/ATVBAHA.113.301901DOI Listing
November 2013

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Doc Ophthalmol 2012 Oct 19;125(2):161-8. Epub 2012 Jun 19.

University Eye Clinic, University Hospital Sveti Duh, 11. Podbrezje 26A, 10020 Zagreb, Croatia.

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http://link.springer.com/10.1007/s10633-012-9337-y
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http://dx.doi.org/10.1007/s10633-012-9337-yDOI Listing
October 2012

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Eur J Hum Genet 2012 May 11;20(5). Epub 2012 Jan 11.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2011.251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330226PMC
May 2012

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Am J Med Genet A 2011 Nov 30;155A(11):2855-9. Epub 2011 Sep 30.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.34264
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http://dx.doi.org/10.1002/ajmg.a.34264DOI Listing
November 2011

Childhood-onset autosomal recessive bestrophinopathy.

Arch Ophthalmol 2011 Aug;129(8):1088-93

Molecular Genetics, Institute of Ophthalmology, University College London, Moorfields Eye Hospital, England.

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http://dx.doi.org/10.1001/archophthalmol.2011.197DOI Listing
August 2011

The human visual cortex responds to gene therapy-mediated recovery of retinal function.

J Clin Invest 2011 Jun 23;121(6):2160-8. Epub 2011 May 23.

Diffusion Tensor Image Analyses and Brain Morphometry Center, Department of Radiology, Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1172/JCI57377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104779PMC
June 2011

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.

Surv Ophthalmol 2010 Nov-Dec;55(6):531-8. Epub 2010 Sep 20.

Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany.

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http://dx.doi.org/10.1016/j.survophthal.2010.03.007DOI Listing
December 2010

Ptosis as an associated finding in maternally inherited diabetes and deafness.

Ophthalmic Genet 2010 Dec;31(4):240-3

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.3109/13816810.2010.520297DOI Listing
December 2010

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Hum Mutat 2010 Oct;31(10):1097-108

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.21337DOI Listing
October 2010

Normalization of generalized retinal function and progression of maculopathy after cessation of therapy in a case of severe hydroxychloroquine retinopathy with 19 years follow-up.

Doc Ophthalmol 2010 Jun 16;120(3):251-64. Epub 2010 Apr 16.

Department of Ophthalmology, Universitair Ziekenhuis-Vrij Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://link.springer.com/10.1007/s10633-010-9220-7
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http://dx.doi.org/10.1007/s10633-010-9220-7DOI Listing
June 2010

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.

Br J Ophthalmol 2010 Apr 1;94(4):479-86. Epub 2009 Sep 1.

Department of Ophthalmology & Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium.

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http://bjo.bmj.com/cgi/doi/10.1136/bjo.2009.162644
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http://dx.doi.org/10.1136/bjo.2009.162644DOI Listing
April 2010

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Prog Retin Eye Res 2009 May 16;28(3):187-205. Epub 2009 Apr 16.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.preteyeres.2009.04.002DOI Listing
May 2009

Cancer-associated retinopathy (CAR) with electronegative ERG: a case report.

Doc Ophthalmol 2008 Jan 25;116(1):49-55. Epub 2007 Aug 25.

Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium.

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http://link.springer.com/10.1007/s10633-007-9074-9
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http://dx.doi.org/10.1007/s10633-007-9074-9DOI Listing
January 2008

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Invest Ophthalmol Vis Sci 2007 Sep;48(9):4250-6

Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Santé et de la Recherche Médicale, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1167/iovs.05-1604DOI Listing
September 2007