Samuel G Jacobson Selected Research

Leber Congenital Amaurosis

1/2022	Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
2/2021	Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
1/2021	Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.
1/2020	Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.
1/2019	Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
1/2019	Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
11/2017	In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
1/2017	Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.
10/2016	Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
1/2016	Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.

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Samuel G Jacobson Research Topics

Disease

34	Leber Congenital Amaurosis 01/2022 - 01/2003
29	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2021 - 04/2002
29	Retinal Degeneration 01/2019 - 01/2002
18	Blindness (Hysterical Blindness) 01/2020 - 04/2002
8	Ciliopathies 01/2021 - 06/2009
7	Retinal Diseases 10/2013 - 02/2004
6	Macular Degeneration (Age-Related Maculopathy) 01/2017 - 07/2002
5	Blue cone monochromatism 01/2022 - 12/2013
5	Cone-Rod Dystrophies 01/2019 - 06/2002
4	Usher Syndromes (Usher Syndrome) 01/2016 - 06/2008
4	Vision Disorders (Hemeralopia) 12/2013 - 04/2004
3	Disease Progression 07/2017 - 05/2009
3	Choroideremia 01/2016 - 03/2002
3	Retinal Dystrophies 11/2009 - 01/2002
3	Enhanced S-Cone Syndrome 03/2003 - 01/2002
2	Low Vision (Subnormal Vision) 01/2022 - 01/2016
2	Photophobia (Light Sensitivity) 01/2021 - 07/2010
2	Atrophy 01/2020 - 05/2015
2	Laminopathies 03/2014 - 04/2008
2	Stargardt Disease 12/2013 - 03/2004
2	congenital stationary Night blindness 01/2013 - 02/2012
2	Color Vision Defects (Color Blindness) 07/2010 - 08/2002
2	Diabetic Retinopathy (Retinopathy, Diabetic) 11/2009 - 04/2005
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Toxic Optic Neuropathy 01/2020
1	Agenesis of Cerebellar Vermis 11/2017
1	Geographic Atrophy 04/2015
1	Rare Diseases (Rare Disease) 11/2014
1	type 1 Amaurosis congenita of Leber 01/2013
1	Type Ib Usher Syndrome 10/2011
1	Deaf-Blind Disorders 07/2011
1	Sudden Death 02/2011
1	Renal Insufficiency (Renal Failure) 02/2011
1	Nonsyndromic Deafness 08/2009
1	type 1B Usher syndrome 04/2009
1	Scotoma (Scintillating Scotoma) 04/2008
1	Leukemia 12/2006
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 11/2006
1	Hypertrophy 09/2006
1	Retinal Perforations 08/2006
1	Macular Edema 04/2005
1	Choroidal Neovascularization 04/2005
1	Late-Onset Retinal Degeneration 10/2003
1	Vitelliform Macular Dystrophy 02/2003
1	Dog Diseases (Disease, Canine) 04/2002

Drug/Important Bio-Agent (IBA)

63	Retinaldehyde (Retinal)IBA 01/2022 - 01/2002
18	Proteins (Proteins, Gene)FDA Link 01/2019 - 08/2002
8	GTP Phosphohydrolases (GTPases)IBA 01/2021 - 05/2007
7	RetinoidsIBA 05/2015 - 04/2005
6	Rhodopsin (Visual Purple)IBA 10/2019 - 04/2002
4	retinoid isomerohydrolase (retinol isomerase)IBA 08/2015 - 09/2007
4	DNA (Deoxyribonucleic Acid)IBA 10/2013 - 01/2003
3	Antisense OligonucleotidesIBA 01/2022 - 01/2019
3	Protein Isoforms (Isoforms)IBA 01/2021 - 08/2009
3	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/2019 - 01/2013
2	CalciumIBA 01/2019 - 01/2017
2	Myosins (Myosin)IBA 01/2016 - 10/2011
2	IsomerasesIBA 01/2016 - 12/2010
2	guanylate cyclase 1IBA 08/2015 - 06/2006
2	LipofuscinIBA 06/2015 - 05/2015
2	Cone OpsinsIBA 01/2015 - 01/2003
2	Phosphotransferases (Kinase)IBA 12/2011 - 08/2011
2	Macular PigmentIBA 03/2007 - 03/2002
2	LuteinIBA 03/2007 - 03/2002
2	Transcription Factors (Transcription Factor)IBA 01/2003 - 06/2002
1	Codon (Codons)IBA 01/2020
1	N- (4- azidobenzoylglycyl)- S- (2- thiopyridyl)cysteine (AGTC)IBA 01/2020
1	Guanylate Cyclase-Activating ProteinsIBA 01/2017
1	Complement System Proteins (Complement)IBA 01/2016
1	Adenosine Triphosphatases (ATPase)IBA 08/2015
1	Proteasome Endopeptidase Complex (Proteasome)IBA 08/2015
1	ElastinIBA 11/2014
1	Fibrillin-2IBA 11/2014
1	Glycoproteins (Glycoprotein)IBA 11/2014
1	EnzymesIBA 07/2014
1	WD repeat containing planar cell polarity effectorIBA 04/2012
1	OpsinsIBA 03/2011
1	dehydrodolichyl diphosphate synthetaseIBA 02/2011
1	ElectrolytesIBA 02/2011
1	BestrophinsIBA 11/2009
1	Insulin (Novolin)FDA Link 11/2009
1	HydrogelsIBA 11/2009
1	lecithin-retinol acyltransferaseIBA 06/2009
1	Metalloproteases (Metalloproteinases)IBA 05/2009
1	Melanins (Melanin)IBA 04/2008
1	NucleotidesIBA 12/2006
1	retinol dehydrogenaseIBA 12/2005
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2005
1	Complementary DNA (cDNA)IBA 04/2005
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 03/2004
1	CollagenIBA 10/2003
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 03/2003
1	Chloride Channels (Chloride Channel)IBA 02/2003
1	GTP-Binding Protein alpha SubunitsIBA 08/2002
1	Ataxin-7IBA 06/2002
1	c-Mer Tyrosine KinaseIBA 01/2002

Therapy/Procedure

19	Therapeutics 02/2021 - 02/2005
1	Intravitreal Injections 01/2019
1	Oral Medicine 01/2016
1	Injections 08/2006