List of works - Michel Michaelides

A 2-year prospective randomized controlled trial of intravitreal bevacizumab or laser therapy (BOLT) in the management of diabetic macular edema: 24-month data: report 3.

scientific article

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis

scientific article published on 01 July 2018

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM

scientific article published on 11 July 2018

A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.

scientific article

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

scientific article published in February 2018

A prospective longitudinal study of retinal structure and function in achromatopsia.

scientific article

A prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (BOLT study) 12-month data: report 2.

scientific article

Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

scientific article

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

scientific article published on 01 January 2019

Assessing the photoreceptor mosaic over drusen using adaptive optics and SD-OCT.

scientific article

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

scientific article published on 26 October 2017

Bilateral canaliculitis following SmartPLUG insertion for dry eye syndrome post LASIK surgery

scientific article

Bilateral superior ophthalmic vein thrombosis in a young woman

scientific article (publication date: February 2003)

Blue cone monochromacy: causative mutations and associated phenotypes.

scientific article

CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

scientific article published on 03 March 2015

Childhood-onset Leber hereditary optic neuropathy

scientific article

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

scientific article published on 5 January 2017

Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

scientific article

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

scientific article published on 28 December 2016

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

scientific article published on 23 February 2017

Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.

scientific article

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

scientific article

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

scientific article published on 12 April 2019

Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia

scientific article published on 01 April 2016

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene

scientific article

Effects of Intraframe Distortion on Measures of Cone Mosaic Geometry from Adaptive Optics Scanning Light Ophthalmoscopy ⬇️

scientific article

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

scientific article

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

scientific article published on 16 April 2020

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

scientific article

Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health

scientific article

Glaucoma following congenital cataract surgery--the role of early surgery and posterior capsulotomy

scientific article

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

scientific article

Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

scientific article published on 25 March 2020

Injection frequency and response to bevacizumab monotherapy for diabetic macular oedema (BOLT Report 5).

scientific article

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

scientific article published on December 2015

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

scientific article published on 10 February 2016

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

scientific article published on 5 October 2018

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

scientific article published on 2 February 2018

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

scientific article

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

scientific article

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

scientific article published on 01 September 2020

Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up

Macular perfusion determined by fundus fluorescein angiography at the 4-month time point in a prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (Bolt Study): Report 1.

scientific article

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

scientific article

Multisensory cue combination after sensory loss: Audio-visual localization in patients with progressive retinal disease.

scientific article published on 9 February 2017

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

scientific article

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy

scientific article

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

scientific article published on 07 November 2015

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

scientific article

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

scientific journal article

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

scientific article published on 12 November 2010

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

scientific article

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

scientific article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

Optical coherence tomography: an assessment of current training across all levels of seniority in 8 ophthalmic units in the United Kingdom

scientific article

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

scientific article published on 13 June 2020

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy

scientific article published on 14 January 2015

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

scientific article published on 12 October 2017

Progressive cone dystrophy associated with mutation in CNGB3.

scientific article

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy

scientific article

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

scientific article

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Retinal Structure in RPE65-Associated Retinal Dystrophy

scientific article published on 01 April 2020

Retinal gene therapy

scientific article published on 01 June 2018

Retinal structure and function in achromatopsia: implications for gene therapy.

scientific article published on 20 October 2013

Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy

scientific article

Retinal vein occlusion and angle closure: a retrospective case series

scientific article

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

scientific article published on 31 July 2019

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

scientific article

Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1)

scientific article published on 25 June 2018

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis

scientific article published in January 2018

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

scientific article

Skills acquisition and assessment after a microsurgical skills course for ophthalmology residents

scientific article

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

scientific article published on June 2017

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

scientific article

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

scientific article published on 05 October 2020

The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy

scientific article

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

scientific article

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

scientific article

The cone dysfunction syndromes

scientific article published on 13 March 2015

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

scientific article published on 26 August 2017

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

scientific article published on 16 January 2018

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

scientific article

Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

scientific article published on 05 June 2018

Unsupervised identification of cone photoreceptors in non-confocal adaptive optics scanning light ophthalmoscope images

scientific article

Validation of a Vision-Guided Mobility Assessment for RPE65-Associated Retinal Dystrophy

scientific article published on 03 September 2020

Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways

scientific article

Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10

Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6.

scientific article published on 23 May 2017

Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).

scientific article published on July 2016

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

scientific article published on 28 November 2016

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

scientific article published in 2022

X-linked cone dystrophy caused by mutation of the red and green cone opsins

scientific article

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

scientific article

List of works by Michel Michaelides

A 2-year prospective randomized controlled trial of intravitreal bevacizumab or laser therapy (BOLT) in the management of diabetic macular edema: 24-month data: report 3.

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM

A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

A prospective longitudinal study of retinal structure and function in achromatopsia.

A prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (BOLT study) 12-month data: report 2.

Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

Assessing the photoreceptor mosaic over drusen using adaptive optics and SD-OCT.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Bilateral canaliculitis following SmartPLUG insertion for dry eye syndrome post LASIK surgery

Bilateral superior ophthalmic vein thrombosis in a young woman

Blue cone monochromacy: causative mutations and associated phenotypes.

CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

Childhood-onset Leber hereditary optic neuropathy

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene

Effects of Intraframe Distortion on Measures of Cone Mosaic Geometry from Adaptive Optics Scanning Light Ophthalmoscopy ⬇️

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health

Glaucoma following congenital cataract surgery--the role of early surgery and posterior capsulotomy

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

Injection frequency and response to bevacizumab monotherapy for diabetic macular oedema (BOLT Report 5).

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up

Macular perfusion determined by fundus fluorescein angiography at the 4-month time point in a prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (Bolt Study): Report 1.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

Multisensory cue combination after sensory loss: Audio-visual localization in patients with progressive retinal disease.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Optical coherence tomography: an assessment of current training across all levels of seniority in 8 ophthalmic units in the United Kingdom

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

Progressive cone dystrophy associated with mutation in CNGB3.

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Retinal Structure in RPE65-Associated Retinal Dystrophy

Retinal gene therapy

Retinal structure and function in achromatopsia: implications for gene therapy.

Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy

Retinal vein occlusion and angle closure: a retrospective case series

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1)

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

Skills acquisition and assessment after a microsurgical skills course for ophthalmology residents

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️