Rando Allikmets

Rando Allikmets

UNVERIFIED PROFILE

Are you Rando Allikmets?   Register this Author

Register author
Rando Allikmets

Rando Allikmets

Publications by authors named "Rando Allikmets"

Are you Rando Allikmets?   Register this Author

100Publications

3328Reads

36Profile Views

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Am J Ophthalmol 2019 Nov 8;207:77-86. Epub 2019 Jun 8.

Department of Ophthalmology, Columbia University Medical Center, New York, New York, USA; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, New York, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2019.06.002DOI Listing
November 2019

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

N Engl J Med 2019 10 11;381(15):1422-1433. Epub 2019 Sep 11.

From the Lowy Medical Research Institute (M.L.G., K.E., R.F., J.T., S.G., S.H.-P., Y.I., L. Scheppke, M.I.D., M.K., M. Friedlander), University of California, San Diego (M.W., M.K.H., M. Baldini, M.G.B., C.M.M.), Scripps Research Institute (S.H.-P., Y.I., M.K., M. Friedlander), and Scripps Clinic Medical Group (M. Friedlander), La Jolla, and Point Loma Nazarene University, San Diego (M.I.D.) - all in California; Moran Eye Center, University of Utah, Salt Lake City (L. Sauer, B.J.H., P.S.B.); Moorfields Eye Hospital (T.F.C.H., C.E.) and University College London Institute of Ophthalmology (S.M.W., M. Fruttiger), London; Columbia University, New York (C.C., T.N., R.A.); Walter and Eliza Hall Institute of Medical Research, Parkville, VIC (R.B., M. Bahlo), Royal Victorian Eye and Ear Hospital (M.O.) and University of Melbourne Centre for Eye Research (R.G.), Melbourne, VIC, and the Save Sight Institute, University of Sydney, Sydney (M.G.) - all in Australia; and Massachusetts General Hospital, Boston (F.E.).

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMoa1815111
Publisher Site
http://dx.doi.org/10.1056/NEJMoa1815111DOI Listing
October 2019

Modification of the disease phenotype by a mutation in .

Ophthalmic Genet 2019 Aug 6;40(4):369-375. Epub 2019 Sep 6.

Department of Ophthalmology, Columbia University , New York , New York , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2019.1660382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777736PMC
August 2019

Late-onset pattern macular dystrophy mimicking and disease is caused by a homozygous frameshift mutation in .

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
Publisher Site
http://dx.doi.org/10.1101/mcs.a003624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549556PMC
June 2019

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.

Invest Ophthalmol Vis Sci 2019 05;60(6):2347-2356

Department of Ophthalmology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.19-26993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6538366PMC
May 2019

Multi-platform imaging in ABCA4-Associated Disease.

Sci Rep 2019 Apr 23;9(1):6436. Epub 2019 Apr 23.

Department of Ophthalmology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-42772-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478712PMC
April 2019

Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

J Neurosci Res 2019 Jan 27;97(1):98-106. Epub 2018 Apr 27.

Department of Ophthalmology, Columbia University Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jnr.24252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532423PMC
January 2019

Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.

Am J Ophthalmol 2018 11 26;195:16-25. Epub 2018 Jul 26.

Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Columbia University, New York, New York, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2018.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547128PMC
November 2018

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Invest Ophthalmol Vis Sci 2018 11;59(13):5564-5565

Departments of Ophthalmology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.18-25579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735614PMC
November 2018

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Am J Ophthalmol 2018 06 14;190:99-112. Epub 2018 Mar 14.

Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, New York, New York, USA; Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Stem Cell Initiative, Columbia University, New York, New York, USA; Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2018.03.008DOI Listing
June 2018

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Am J Hum Genet 2018 04 8;102(4):517-527. Epub 2018 Mar 8.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985352PMC
April 2018

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology 2018 01 22;125(1):89-99. Epub 2017 Sep 22.

Department of Ophthalmology, Columbia University, New York, New York; Department of Pathology and Cell Biology, Columbia University, New York, New York. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01616420173154
Publisher Site
http://dx.doi.org/10.1016/j.ophtha.2017.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846118PMC
January 2018

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Ophthalmic Genet 2017 12 17;38(6):575-579. Epub 2017 May 17.

a Department of Ophthalmology , College of Physicians and Surgeons, Columbia University , New York , New York , USA.

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/13816810.2017.1
Publisher Site
http://dx.doi.org/10.1080/13816810.2017.1323339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314194PMC
December 2017

Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefes Arch Clin Exp Ophthalmol 2017 Jul 2;255(7):1307-1317. Epub 2017 Apr 2.

Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla 3, Florence, 50134, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00417-017-3637-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500688PMC
July 2017

Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration.

Invest Ophthalmol Vis Sci 2017 05;58(5):2810-2815

Ophthalmology, Columbia University College of Physicians and Surgeons, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-20343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455172PMC
May 2017

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Hum Mutat 2017 04 3;38(4):400-408. Epub 2017 Feb 3.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23165DOI Listing
April 2017

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2017 03;58(3):1843-1855

Department of Ophthalmology, Columbia University, New York, New York, United States 3Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-21302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5377994PMC
March 2017

Quantitative Autofluorescence and ABCA4 Disease.

Invest Ophthalmol Vis Sci 2016 06;57(7):3297-8

Department of Ophthalmology, Columbia University, New York, New York, United States; and the 2Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-19342DOI Listing
June 2016

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Invest Ophthalmol Vis Sci 2016 06;57(7):3409-15

Department of Ophthalmology, Columbia University, New York, New York, United States 2Department of Pathology & Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-19621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961055PMC
June 2016

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.

Graefes Arch Clin Exp Ophthalmol 2016 May 28;254(5):865-72. Epub 2015 Aug 28.

Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 Ft Washington Ave, New York, NY, 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00417-015-3142-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769982PMC
May 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Invest Ophthalmol Vis Sci 2015 Nov;56(12):7274-85

Department of Ophthalmology, Columbia University, New York, New York, United States 2Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.15-17371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642605PMC
November 2015

Reply: To PMID 25545482.

Retina 2015 Sep;35(9):e58

*Vitreous-Retina-Macula Consultants of New York and the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Institute, New York, New York †Australian School of Advanced Medicine, Macquarie University Hospital, Sydney, Australia ‡Save Sight Institute, University of Sydney, Sydney, Australia §Department of Ophthalmology, Columbia University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0000000000000697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610367PMC
September 2015

Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease.

Invest Ophthalmol Vis Sci 2015 Jul;56(8):4662-7

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States 5Department of Psychology, University of Illinois at Chicago, Chicago, Illinois, United States 6Department of Bioengineering, University o.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.15-16955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516018PMC
July 2015

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

Invest Ophthalmol Vis Sci 2015 May;56(5):3159-70

Department of Ophthalmology, Columbia University, New York, New York, United States 2Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-16343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451616PMC
May 2015

Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease.

Invest Ophthalmol Vis Sci 2015 May;56(5):3226-34

Department of Ophthalmology, Columbia University, New York, New York, United States 4Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-16050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453463PMC
May 2015

New best1 mutations in autosomal recessive bestrophinopathy.

Retina 2015 Apr;35(4):773-82

*Vitreous-Retina-Macula Consultants of New York and the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Institute, New York, New York; †Department of Ophthalmology, Columbia University, New York, New York; ‡Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York; §Department of Pathology and Cell Biology, Columbia University, New York, New York; ¶Albany Medical Center, Albany, New York; **Department of Ophthalmology, Weill Cornell Medical College, New York, New York; ††Ophthalmology Section, Department of Neuroscience, Polytechnic University of Marche, Ancona, Italy; ‡‡Australian School of Advanced Medicine, Macquarie University Hospital, Sydney, Australia; and §§Save Sight Institute, University of Sydney, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0000000000000387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425987PMC
April 2015

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology 2015 Feb 3;122(2):345-55. Epub 2014 Oct 3.

Department of Ophthalmology, Columbia University, New York, New York; Department of Pathology and Cell Biology, Columbia University, New York, New York. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2014.08.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306619PMC
February 2015

Clinical and molecular characteristics of childhood-onset Stargardt disease.

Ophthalmology 2015 Feb 12;122(2):326-34. Epub 2014 Oct 12.

UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, City Road, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2014.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459618PMC
February 2015

Gene Therapy of ABCA4-Associated Diseases.

Cold Spring Harb Perspect Med 2015 Jan 8;5(5):a017301. Epub 2015 Jan 8.

Department of Ophthalmology, and Department of Pathology and Cell Biology, Columbia University, New York, New York 10032.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a017301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448589PMC
January 2015

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Invest Ophthalmol Vis Sci 2014 Oct 9;55(11):7217-26. Epub 2014 Oct 9.

Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology & Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-14674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228863PMC
October 2014

Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Invest Ophthalmol Vis Sci 2014 Oct 23;55(12):8134-43. Epub 2014 Oct 23.

Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology and Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/Article.aspx?doi=10.1167/iovs.1
Publisher Site
http://dx.doi.org/10.1167/iovs.14-14848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266077PMC
October 2014

Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina 2014 Sep;34(9):1888-95

*Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, Illinois; †Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois; and Departments of ‡Ophthalmology, and §Pathology and Cell Biology, Columbia University, New York, New York.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00006982-201409000-000
Publisher Site
http://dx.doi.org/10.1097/IAE.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145077PMC
September 2014

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Ophthalmology 2014 Sep 6;121(9):1773-82. Epub 2014 May 6.

Department of Ophthalmology, Columbia University, New York, New York; Department of Pathology & Cell Biology, Columbia University, New York, New York. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2014.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145015PMC
September 2014

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

The external limiting membrane in early-onset Stargardt disease.

Invest Ophthalmol Vis Sci 2014 Aug 19;55(10):6139-49. Epub 2014 Aug 19.

Department of Ophthalmology, Columbia University, New York, New York, United States Department of Pathology & Cell Biology, Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-15126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184384PMC
August 2014

The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina 2014 Jul;34(7):1391-9

*Pangere Center for Inherited Retinal Disease, The Chicago Lighthouse For People Who Are Blind or Visually Impaired, Chicago, Illinois; †Department of Ophthalmology, University of Illinois, Chicago, Illinois; ‡Howard Hughes Medical Institute, Chevy Chase, MD; §Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; and ¶Department of Ophthalmology, Columbia University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0000000000000070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098760PMC
July 2014

Quantitative fundus autofluorescence in recessive Stargardt disease.

Invest Ophthalmol Vis Sci 2014 May 1;55(5):2841-52. Epub 2014 May 1.

Department of Ophthalmology and Columbia University, New York, New York, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.13-13624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008047PMC
May 2014

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Invest Ophthalmol Vis Sci 2014 Apr 29;55(4):2766-76. Epub 2014 Apr 29.

Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.13-13391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005615PMC
April 2014

Fine central macular dots associated with childhood-onset Stargardt Disease.

Acta Ophthalmol 2014 Mar 11;92(2):e157-9. Epub 2013 Sep 11.

Moorfields Eye Hospital, London, UK; UCL Institute of Ophthalmology, London, UK; National Institute of Sensory Organs, National Hospital Organization, National Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology, School of Medicine, Keio University, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.12259DOI Listing
March 2014

Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.

Doc Ophthalmol 2014 Feb 19;128(1):59-67. Epub 2013 Dec 19.

Department of Ophthalmology, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-013-9420-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974164PMC
February 2014

Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy.

JAMA Ophthalmol 2013 Dec;131(12):1651

Department of Ophthalmology, Columbia University, New York, New York 5Department of Pathology and Cell Biology,Columbia University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2013.5363DOI Listing
December 2013

Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.

Graefes Arch Clin Exp Ophthalmol 2013 Oct 19;251(10):2299-309. Epub 2013 Apr 19.

Department of Ophthalmology, Columbia University, New York, NY, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00417-013-2296-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291322PMC
October 2013

Expanded clinical spectrum of enhanced S-cone syndrome.

JAMA Ophthalmol 2013 Oct;131(10):1324-30

Department of Ophthalmology, Columbia University, New York, New York2Rotterdam Eye Hospital, Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2013.4349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405536PMC
October 2013

Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2013 Oct 17;54(10):6820-6. Epub 2013 Oct 17.

Department of Ophthalmology, Columbia University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.13-12895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799564PMC
October 2013

Abnormality in the external limiting membrane in early Stargardt disease.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):75-7. Epub 2012 Aug 7.

Department of Ophthalmology, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/13816810.2012.70
Publisher Site
http://dx.doi.org/10.3109/13816810.2012.707271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115808PMC
August 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Familial discordance in Stargardt disease.

Mol Vis 2012 28;18:227-33. Epub 2012 Jan 28.

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272278PMC
July 2012

Functional Analysis of Retinal Flecks in Stargardt Disease.

J Clin Exp Ophthalmol 2012 Jul;3

Department of Specialized Surgical Sciences, Eye Clinic, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4172/2155-9570.1000233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882688PMC
July 2012

Disruption in Bruch membrane in patients with Stargardt disease.

Ophthalmic Genet 2012 Mar 7;33(1):49-52. Epub 2011 Nov 7.

Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/13816810.2011.62
Publisher Site
http://dx.doi.org/10.3109/13816810.2011.628358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407800PMC
March 2012

Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians.

Ophthalmic Genet 2011 Jun 10;32(2):80-2. Epub 2011 Mar 10.

Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2010.544362DOI Listing
June 2011

Loss of peripapillary sparing in non-group I Stargardt disease.

Exp Eye Res 2010 Nov 7;91(5):592-600. Epub 2010 Aug 7.

Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S001448351000242
Publisher Site
http://dx.doi.org/10.1016/j.exer.2010.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2962723PMC
November 2010

Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for Retinitis Pigmentosa: Transplantation 2010 April 27;89 (8): 911-919.

Ann Neurosci 2010 Oct;17(4):185-6

Department of Ophthalmology, Columbia University, New York City, NY ; Department of Pathology and Cell Biology, Columbia University, New York, NY ; Bernard and Shirlee Brown Glaucoma Laboratory, Columbia University, New York City, NY ; Bernard and Shirlee Brown Glaucoma Laboratory, Columbia University, New York City, NY.

View Article

Download full-text PDF

Source
http://www.annalsofneurosciences.org/journal/index.php/annal
Publisher Site
http://dx.doi.org/10.5214/ans.0972.7531.1017408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117017PMC
October 2010