Ian M MacDonald Selected Research

Choroideremia

1/2021	Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia.
1/2020	Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations.
1/2020	Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method.
1/2020	A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
1/2018	Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.
9/2017	Choroideremia.
9/2013	Choroideremia: towards a therapy.
2/2013	High-resolution images of retinal structure in patients with choroideremia.
1/2012	Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia.
5/2009	Choroideremia: new findings from ocular pathology and review of recent literature.

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Ian M MacDonald Research Topics

Disease

17	Choroideremia 01/2021 - 03/2002
4	Atrophy 08/2019 - 08/2003
3	Retinal Degeneration 09/2020 - 02/2003
3	Retinal Diseases 11/2011 - 09/2006
2	Peripheral Nervous System Diseases (PNS Diseases) 09/2020 - 08/2019
2	Ataxia (Dyssynergia) 09/2020 - 01/2017
2	Disease Progression 08/2020 - 01/2020
2	Retinal Dystrophies 01/2018 - 09/2013
2	Macular Degeneration (Age-Related Maculopathy) 01/2018 - 10/2010
2	Blindness (Hysterical Blindness) 06/2007 - 11/2006
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Usher Syndromes (Usher Syndrome) 01/2021
1	Cone-Rod Dystrophies 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Canavan Disease (Leukodystrophy, Spongiform) 01/2021
1	Megalencephaly 01/2021
1	Refsum Disease (Refsum's Disease) 09/2020
1	Anosmia 09/2020
1	Hearing Loss (Hearing Impairment) 09/2020
1	Cerebellar Ataxia (Dysmetria) 09/2020
1	Ichthyosis (Xeroderma) 09/2020
1	Leber Congenital Amaurosis 07/2020
1	Inflammation (Inflammations) 01/2020
1	Rheumatic Diseases (Rheumatism) 01/2020
1	Retinoschisis (Retinoschisis, Juvenile) 08/2019
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 08/2019
1	Myopia 08/2019
1	Rhabdomyolysis 08/2019
1	Stargardt Disease 01/2018
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2017
1	Apraxias (Dyspraxia) 01/2017
1	Eye Diseases (Eye Disease) 01/2016
1	congenital stationary Night blindness 10/2010
1	Vitelliform Macular Dystrophy 10/2010
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 06/2007
1	Hypertrophy 09/2006
1	Strabismus (Squint) 04/2004
1	Diplopia (Double Vision) 04/2004
1	Cataract (Cataracts) 04/2004
1	Scotoma (Scintillating Scotoma) 01/2004

Drug/Important Bio-Agent (IBA)

12	Retinaldehyde (Retinal)IBA 01/2021 - 08/2003
6	Proteins (Proteins, Gene)FDA Link 08/2019 - 09/2002
2	EnzymesIBA 01/2021 - 07/2004
2	Docosahexaenoic AcidsIBA 01/2018 - 10/2010
1	A-Form DNA (A-DNA)IBA 01/2021
1	aspartoacylaseIBA 01/2021
1	Antisense OligonucleotidesIBA 01/2021
1	N-acetylaspartate (N-acetyl aspartate)IBA 01/2021
1	Phytanic AcidIBA 09/2020
1	Bortezomib (Velcade)FDA Link 08/2020
1	Rituximab (Mabthera)FDA Link 08/2020
1	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 01/2020
1	Retroelements (Retrotransposon)IBA 01/2020
1	acylcarnitineIBA 08/2019
1	3-Hydroxyacyl-CoA DehydrogenaseIBA 08/2019
1	LipidsIBA 01/2018
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2018
1	AcidsIBA 01/2018
1	dichloromaleic acid (DCMA)IBA 01/2017
1	Biomarkers (Surrogate Marker)IBA 01/2012
1	Ciliary Neurotrophic Factor (CNTF)IBA 06/2007
1	Nonsense Codon (Nonsense Mutation)IBA 07/2004
1	Rab geranylgeranyltransferaseIBA 07/2004
1	Retinal Pigments (Pigments, Visual)IBA 01/2004
1	DNA (Deoxyribonucleic Acid)IBA 02/2003
1	Codon (Codons)IBA 02/2003
1	Amino Acids FDA Link 02/2003
1	Macular PigmentIBA 03/2002
1	LuteinIBA 03/2002

Therapy/Procedure

7	Therapeutics 01/2021 - 09/2013
1	Investigational Therapies (Experimental Therapy) 09/2017
1	Cell- and Tissue-Based Therapy (Cell Therapy) 06/2007
1	Eyeglasses (Spectacles) 04/2004
1	Conduction Anesthesia (Regional Anesthesia) 04/2004