Edwin M Stone Selected Research

Stargardt Disease

10/2020	Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease.
12/2014	Stem cells as tools for studying the genetics of inherited retinal degenerations.
7/2014	The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.
12/2013	Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
12/2013	A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.
10/2010	Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
7/2004	Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.
3/2004	Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.

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Edwin M Stone Research Topics

Disease

29	Macular Degeneration (Age-Related Maculopathy) 01/2022 - 07/2004
23	Retinal Degeneration 01/2022 - 05/2003
20	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022 - 08/2003
17	Glaucoma 12/2021 - 09/2002
16	Blindness (Hysterical Blindness) 01/2019 - 03/2004
14	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019 - 09/2002
13	Leber Congenital Amaurosis 01/2017 - 04/2005
10	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2014 - 06/2004
9	Retinal Diseases 01/2021 - 09/2006
9	Vitelliform Macular Dystrophy 01/2020 - 02/2003
8	Stargardt Disease 10/2020 - 03/2004
5	Atrophy 10/2020 - 01/2007
5	Disease Progression 10/2020 - 12/2002
5	Retinoschisis (Retinoschisis, Juvenile) 01/2019 - 01/2009
5	Eye Diseases (Eye Disease) 01/2012 - 01/2003
4	Choroidal Neovascularization 09/2021 - 02/2011
4	Enhanced S-Cone Syndrome 01/2019 - 01/2002
4	Low Tension Glaucoma 01/2019 - 11/2002
4	Inflammation (Inflammations) 01/2019 - 06/2010
3	Ganglion Cysts (Ganglion) 12/2021 - 12/2012
3	North Carolina type 1 retinal Macular dystrophy 09/2021 - 12/2010
3	Choroideremia 01/2020 - 03/2002
3	Ocular Hypertension (Glaucoma, Suspect) 09/2006 - 11/2002
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 01/2017
2	Infections 01/2019 - 01/2013
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 03/2014
2	Retinal Dystrophies 02/2016 - 05/2015
2	Ciliopathies 06/2015 - 04/2011
2	Laminopathies 03/2014 - 04/2008
2	Cicatrix (Scar) 01/2013 - 07/2007
2	Obesity 01/2012 - 06/2004
2	Usher Syndromes (Usher Syndrome) 08/2010 - 06/2008
2	Keratoconus 07/2009 - 05/2002
2	Cataract (Cataracts) 05/2009 - 10/2004
1	Common Variable Immunodeficiency 01/2022
1	Telangiectasis (Telangiectasia) 12/2021
1	Noninsulin-dependent diabetes mellitus with deafness 11/2020
1	Bestrophinopathy 01/2020
1	Vascular Diseases (Vascular Disease) 11/2019
1	Ataxia (Dyssynergia) 10/2019
1	Genomic Instability 01/2019
1	Geographic Atrophy 01/2019
1	Neoplasms (Cancer) 01/2016
1	Hypersensitivity (Allergy) 01/2016
1	Autosomal Dominant Radial Drusen 01/2015

Drug/Important Bio-Agent (IBA)

55	Retinaldehyde (Retinal)IBA 01/2022 - 01/2002
22	Proteins (Proteins, Gene)FDA Link 09/2017 - 06/2004
13	trabecular meshwork-induced glucocorticoid response proteinIBA 01/2019 - 09/2002
10	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 05/2002
7	Complement System Proteins (Complement)IBA 01/2022 - 09/2006
5	RNA (Ribonucleic Acid)IBA 01/2021 - 07/2007
5	Rhodopsin (Visual Purple)IBA 01/2020 - 08/2003
5	Phosphotransferases (Kinase)IBA 12/2017 - 08/2011
4	Transcription Factors (Transcription Factor)IBA 01/2019 - 01/2013
4	BestrophinsIBA 07/2009 - 11/2005
3	Biological ProductsIBA 01/2022 - 01/2012
3	Complement Membrane Attack Complex (Membrane Attack Complex)IBA 11/2018 - 11/2014
3	Bevacizumab (Avastin)FDA Link 05/2016 - 02/2011
3	GTP Phosphohydrolases (GTPases)IBA 01/2015 - 05/2007
3	RetinoidsIBA 09/2008 - 04/2005
2	Chloride Channels (Chloride Channel)IBA 01/2020 - 02/2003
2	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2019
2	Protein Isoforms (Isoforms)IBA 01/2019 - 08/2009
2	C-Reactive ProteinIBA 11/2018 - 10/2016
2	dorzolamide (Trusopt)FDA LinkGeneric 06/2014 - 01/2009
2	Ranibizumab (Lucentis)FDA Link 07/2013 - 10/2010
2	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/2013 - 09/2009
2	AntibodiesIBA 04/2011 - 12/2010
2	retinol dehydrogenaseIBA 09/2009 - 09/2008
2	Amino Acids FDA Link 07/2009 - 04/2003
2	fibulinIBA 10/2007 - 07/2004
2	LuteinIBA 03/2007 - 03/2002
2	Macular PigmentIBA 03/2007 - 03/2002
2	SteroidsIBA 04/2003 - 11/2002
1	Immunoglobulin G (IgG)IBA 01/2022
1	polycaprolactoneIBA 01/2022
1	Immunoglobulin A (IgA)IBA 01/2022
1	Complement Factor H (Factor H)IBA 01/2022
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 09/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 10/2019
1	AgglutininsIBA 01/2019
1	B-Form DNA (B-DNA)IBA 01/2019
1	Endoplasmic Reticulum Chaperone BiPIBA 09/2018
1	PolymersIBA 01/2017
1	Fluorescein (Funduscein)FDA LinkGeneric 08/2016
1	Deoxyribonucleases (DNase)FDA Link 01/2016
1	LipofuscinIBA 06/2015
1	PeripherinsIBA 05/2015
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 03/2015
1	Extracellular Matrix ProteinsIBA 01/2015
1	Collagen Type IV (Type IV Collagen)IBA 01/2015
1	Pharmaceutical PreparationsIBA 09/2014
1	Retinal Pigments (Pigments, Visual)IBA 07/2014

Therapy/Procedure

18	Therapeutics 12/2021 - 11/2007
5	Transplantation 01/2018 - 01/2013
2	Lasers (Laser) 07/2014 - 01/2013
2	Injections 07/2013 - 01/2011
2	Slit Lamp 03/2012 - 07/2009
1	Drug Therapy (Chemotherapy) 01/2015