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Author Details

Gerald A Fishman
University of Illinois at Chicago
1971
411
71
PMIDPaper TitleJournal TitlePublished Year
35258559Contrast Sensitivity and Equivalent Intrinsic Noise in X-Linked Retinoschisis.Transl Vis Sci Technol2022
35353811Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS Genet2022
35984651Spatial and Temporal Integration Abnormalities in X-Linked Retinoschisis.Invest Ophthalmol Vis Sci2022
34111268Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.Transl Vis Sci Technol2021
33909047Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.Hum Mol Genet2021
33907365Noncoding mutation in <i>RPGRIP1</i> contributes to inherited retinal degenerations.Mol Vis2021
33510950Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.Transl Vis Sci Technol2021
34705026Luminance Thresholds and Their Correlation With Retinal Structure in X-Linked Retinoschisis.Invest Ophthalmol Vis Sci2021
34233520Pathognomonic macular ripples are revealed by polarized infrared retinal imaging.Exp Biol Med (Maywood)2021
31568063VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA.Retina2020
33029571Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients.J Vitreoretin Dis2020
33154968Cellular Changes in Retinas From Patients With <i>BEST1</i> Mutations.Front Cell Dev Biol2020
33298563Gene dosage manipulation alleviates manifestations of hereditary <i>PAX6</i> haploinsufficiency in mice.Sci Transl Med2020
32579680Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.Invest Ophthalmol Vis Sci2020
32879782Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.Transl Vis Sci Technol2020
32108519Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia.Curr Eye Res2020
31136651Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Invest Ophthalmol Vis Sci2019
30204727CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.Retina2019
30927187Two-color pupillometry in KCNV2 retinopathy.Doc Ophthalmol2019
30796641Unanticipated prognosis for a patient with type 2 Usher syndrome.Doc Ophthalmol2019
27984356STRUCTURAL AND FUNCTIONAL MONITORING OF EXTRAMACULAR CYSTOID SPACES IN A CASE OF X-LINKED RETINOSCHISIS TREATED WITH ACETAZOLAMIDE.Retin Cases Brief Rep2018
29848554Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes.Cold Spring Harb Mol Case Stud2018
29068916VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40.Retina2018
27828908USE OF A CARBONIC ANHYDRASE INHIBITOR IN X-LINKED RETINOSCHISIS: Effect on Cystic-Appearing Macular Lesions and Visual Acuity.Retina2017
28327576Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.Eur J Hum Genet2017
28212877Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.Am J Ophthalmol2017
28446513Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.J Med Genet2017
28145975REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Retina2017
28510626Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.Invest Ophthalmol Vis Sci2017
25265374Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.Ophthalmic Genet2016
26507665North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.Ophthalmology2016
27936069Multimodal Imaging of Photoreceptor Structure in Choroideremia.PLoS One2016
27847664Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy.Case Rep Ophthalmol Med2016
27479814Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Invest Ophthalmol Vis Sci2016
27540851Chorioretinal Lesions in a Case of Melanoma-Associated Retinopathy Treated With Pembrolizumab.JAMA Ophthalmol2016
27369766Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.Doc Ophthalmol2016
26981328Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.Transl Vis Sci Technol2016
27033713Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.Doc Ophthalmol2016
25611880Reply: To PMID 24280667.Retina2015
26656277Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).PLoS One2015
26529047Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients.Invest Ophthalmol Vis Sci2015
26207301Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease.Invest Ophthalmol Vis Sci2015
25687216Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Ophthalmic Genet2015
25579805Rod and cone contributions to the dark-adapted 15-Hz flicker electroretinogram.Doc Ophthalmol2015
23514609Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.Ophthalmic Genet2014
25277229Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.Invest Ophthalmol Vis Sci2014
25066811Genetic and clinical analysis of ABCA4-associated disease in African American patients.Hum Mutat2014
25082829Analysis of the ABCA4 genomic locus in Stargardt disease.Hum Mol Genet2014
24899048Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Hum Mol Genet2014
24906859In vivo imaging of human cone photoreceptor inner segments.Invest Ophthalmol Vis Sci2014
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Collaborators

Edwin M Stone
Carver College of Medicine, University of Iowa, USA Institute for Vision Research
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Samuel G Jacobson
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
Co-authored papers 29
Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 24
Rando Allikmets
Columbia University Medical Center
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Byron L Lam
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Val C Sheffield
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Joseph Carroll
Medical College of Wisconsin Eye Institute
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David G Birch
Retina Foundation of the Southwest
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Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
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Anand Swaroop
National Eye Institute, National Institutes of Health
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Casey Eye Institute at Oregon Health & Science University (OHSU)
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Lee M Jampol
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Michel Michaelides
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Andrew J Lotery
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Rui Chen
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Anthony T Moore
UCL Institute of Ophthalmology, University College London
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Jacque L Duncan
University of California san francisco
Co-authored papers 3
James R Lupski
Baylor College of Medicine
Co-authored papers 3
Arlene V Drack
University of Iowa Carver College of Medicine
Co-authored papers 3
Katie M Litts
Medical College of Wisconsin
Co-authored papers 3
Andrew R Webster
Institute of Ophthalmology, University College London
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Radha Ayyagari
Shiley Eye Institute, University of California San Diego
Co-authored papers 3
Budd A Tucker
the University of Iowa Carver College of Medicine
Co-authored papers 2
Adam P DeLuca
Institute for Vision Research, Carver College of Medicine, University of Iowa
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Michael B Gorin
Jules Stein Eye Institute
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Jeaneen L Andorf
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Hendrik P N Scholl
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Release 1.2