Edwin M Stone Selected Research

Retinoids

9/2008	Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
1/2007	RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
4/2005	Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

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Edwin M Stone Research Topics

Disease

34	Macular Degeneration (Age-Related Maculopathy) 10/2023 - 07/2004
23	Retinal Degeneration 01/2022 - 05/2003
21	Retinitis Pigmentosa (Pigmentary Retinopathy) 12/2023 - 08/2003
18	Glaucoma 11/2023 - 09/2002
17	Blindness (Hysterical Blindness) 12/2023 - 03/2004
14	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019 - 09/2002
13	Leber Congenital Amaurosis 01/2017 - 04/2005
11	Retinal Diseases 04/2024 - 09/2006
10	Vitelliform Macular Dystrophy 01/2023 - 02/2003
10	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2014 - 06/2004
8	Stargardt Disease 10/2020 - 03/2004
6	Choroidal Neovascularization 10/2023 - 02/2011
6	Disease Progression 01/2023 - 12/2002
6	Atrophy 01/2023 - 01/2007
5	Inflammation (Inflammations) 01/2023 - 06/2010
5	Retinoschisis (Retinoschisis, Juvenile) 01/2019 - 01/2009
5	Eye Diseases (Eye Disease) 01/2012 - 01/2003
4	Choroideremia 12/2023 - 03/2002
4	Low Tension Glaucoma 01/2019 - 11/2002
4	Enhanced S-Cone Syndrome 01/2019 - 01/2002
3	Retinal Dystrophies 12/2023 - 05/2015
3	Ganglion Cysts (Ganglion) 12/2021 - 12/2012
3	North Carolina type 1 retinal Macular dystrophy 09/2021 - 12/2010
3	Ocular Hypertension (Glaucoma, Suspect) 09/2006 - 11/2002
2	Retinal Detachment (Retinal Detachments) 01/2023 - 01/2013
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	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	Mucopolysaccharidoses 01/2023
1	MELAS Syndrome (Syndrome, MELAS) 01/2023
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2023
1	Mitochondrial encephalopathy 01/2023
1	Stroke (Strokes) 01/2023
1	Lactic Acidosis 01/2023
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

Drug/Important Bio-Agent (IBA)

62	Retinaldehyde (Retinal)IBA 04/2024 - 01/2002
23	Proteins (Proteins, Gene)FDA Link 12/2023 - 06/2004
13	trabecular meshwork-induced glucocorticoid response proteinIBA 01/2019 - 09/2002
11	DNA (Deoxyribonucleic Acid)IBA 10/2023 - 05/2002
7	Complement System Proteins (Complement)IBA 01/2022 - 09/2006
6	Rhodopsin (Visual Purple)IBA 12/2023 - 08/2003
6	RNA (Ribonucleic Acid)IBA 01/2022 - 07/2007
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	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	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/2023 - 09/2021
2	Fluorescein (Funduscein)FDA LinkGeneric 01/2023 - 08/2016
2	Mitochondrial DNA (mtDNA)IBA 01/2023 - 03/2008
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	Macular PigmentIBA 03/2007 - 03/2002
2	LuteinIBA 03/2007 - 03/2002
2	SteroidsIBA 04/2003 - 11/2002
1	Thrombospondin 1IBA 11/2023
1	ThrombospondinsIBA 11/2023
1	GlycosaminoglycansIBA 01/2023
1	Type 6 Cyclic Nucleotide PhosphodiesterasesIBA 01/2023
1	ChromatinIBA 01/2023
1	BuffersIBA 01/2023
1	enhanced green fluorescent proteinIBA 01/2023
1	EnzymesIBA 01/2023
1	Complement Factor H (Factor H)IBA 01/2022
1	Immunoglobulin A (IgA)IBA 01/2022
1	Immunoglobulin G (IgG)IBA 01/2022
1	polycaprolactoneIBA 01/2022
1	Matrix Metalloproteinase 9 (Gelatinase B)IBA 03/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020

Therapy/Procedure

18	Therapeutics 12/2021 - 11/2007
5	Transplantation 01/2018 - 01/2013
4	Lasers (Laser) 10/2023 - 01/2013
3	Vitrectomy 10/2023 - 01/2013
2	Cataract Extraction 01/2023 - 11/2012
2	Injections 07/2013 - 01/2011
2	Slit Lamp 03/2012 - 07/2009
1	Ambulatory Care (Outpatient Care) 12/2023