List of works - Ian Macdonald

"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials

scientific article published on 26 September 2013

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

scientific article

A New Case of Oculoectodermal Syndrome

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

scientific article published in November 2010

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

scientific article

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia

scientific article published on 22 May 2020

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy

scientific article

A retrospective cohort study of radial optic neurotomy for severe central retinal vein occlusions

scientific article

Advances in the genetics of eye diseases

scientific article published on December 2013

An analysis of strabismus reoperations in Northern Alberta, Canada from 1995 to 2015

scientific article published on 18 May 2018

An internet-based health survey on the co-morbidities of choroideremia patients

scientific article

Bilateral uveitis and Usher syndrome: a case report

scientific article

Choroideremia carriers maintain a normal electro-oculogram (EOG).

scientific article published in March 2007

Choroideremia gene testing

scientific article published in July 2004

Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia

scientific article

Choroideremia: new findings from ocular pathology and review of recent literature

scientific article published on May 2009

Choroideremia: towards a therapy

scientific article

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram

scientific article published on 28 August 2006

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

article

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

scientific article published in April 2004

Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy

scientific article published on 16 August 2019

Copy number variant analysis in CHM to detect duplications underlying choroideremia

scientific article published on 28 December 2012

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation

scientific article published in February 1993

Detection of localized retinal dysfunction in a choroideremia carrier

scientific article

Diplopia after Cataract Surgery

scientific article published on 01 September 2006

Editorial: Introducing Genetics in Ophthalmology

article

Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial

scientific article published on October 2010

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

scientific article (publication date: October 2002)

Extraocular muscle hypertrophy in myotonia congenita

scientific article

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

article

Eyeing a New Network

scientific article published in Science

Genetic factors and AMD.

scientific article published in December 2011

Genetics of age-related macular degeneration.

scientific article published in September 2009

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

scientific article

Growth hormone is present in the human retina and vitreous fluid.

scientific article published on 27 March 2009

High-resolution images of retinal structure in patients with choroideremia

scientific article

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

scientific article published on 25 November 2011

Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3).

scientific article

Introducing Michael A. Walter, the 2002 Recipient of the Cogan Award

Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy

Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms

scientific article published in October 2001

Lines of Blaschko and choroideremia.

scientific article published in May 2009

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

scientific article

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

scientific article

Macular pigment and lutein supplementation in choroideremia

scientific article

Microperimetry in a case of occult macular dystrophy

Mutational analysis of patients with the diagnosis of choroideremia

scientific article published in September 2002

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

scientific article

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

scientific article

Ocular genetics: current understanding

scientific article published on March 2004

Personalized medicine: the translation of genetic knowledge to eye care

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

scientific article

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

scientific article

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

article published in 2007

Re: Analysis of the Publication Volume of Canadian Ophthalmology Departments from 2005 to 2009: A Systematic Review of the Literature

article

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Reply

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

scientific article published on 29 April 2015

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia

scientific article

Severe retinal degeneration in a patient with Canavan disease

scientific article published on 25 September 2020

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

article

Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium

scientific article

Stop Mutations in Exon 6 of the Choroideremia Gene, CHM, Associated With Preservation of the Electroretinogram

article

The functional effect of pathogenic mutations in Rab escort protein 1.

scientific article published on 13 March 2009

The need for standardization of antiretinal antibody detection and measurement

scientific article published on 30 July 2008

The use of lymphocytes to screen for oxidative phosphorylation disorders

scientific article published on 01 February 2003

Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.

scientific article

List of works by Ian Macdonald

"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

A New Case of Oculoectodermal Syndrome

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy

A retrospective cohort study of radial optic neurotomy for severe central retinal vein occlusions

Advances in the genetics of eye diseases

An analysis of strabismus reoperations in Northern Alberta, Canada from 1995 to 2015

An internet-based health survey on the co-morbidities of choroideremia patients

Bilateral uveitis and Usher syndrome: a case report

Choroideremia carriers maintain a normal electro-oculogram (EOG).

Choroideremia gene testing

Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia

Choroideremia: new findings from ocular pathology and review of recent literature

Choroideremia: towards a therapy

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy

Copy number variant analysis in CHM to detect duplications underlying choroideremia

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation

Detection of localized retinal dysfunction in a choroideremia carrier

Diplopia after Cataract Surgery

Editorial: Introducing Genetics in Ophthalmology

Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

Extraocular muscle hypertrophy in myotonia congenita

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

Eyeing a New Network

Genetic factors and AMD.

Genetics of age-related macular degeneration.

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Growth hormone is present in the human retina and vitreous fluid.

High-resolution images of retinal structure in patients with choroideremia

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3).

Introducing Michael A. Walter, the 2002 Recipient of the Cogan Award

Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy

Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms

Lines of Blaschko and choroideremia.

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

Macular pigment and lutein supplementation in choroideremia

Microperimetry in a case of occult macular dystrophy

Mutational analysis of patients with the diagnosis of choroideremia

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

Ocular genetics: current understanding

Personalized medicine: the translation of genetic knowledge to eye care

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

Re: Analysis of the Publication Volume of Canadian Ophthalmology Departments from 2005 to 2009: A Systematic Review of the Literature

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

Reply

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia

Severe retinal degeneration in a patient with Canavan disease

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium

Stop Mutations in Exon 6 of the Choroideremia Gene, CHM, Associated With Preservation of the Electroretinogram

The functional effect of pathogenic mutations in Rab escort protein 1.

The need for standardization of antiretinal antibody detection and measurement

The use of lymphocytes to screen for oxidative phosphorylation disorders

Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.