Lista de obras -

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.

artículo científico publicado en 2017

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Bilateral superior ophthalmic vein thrombosis in a young woman

artículo científico publicado en 2003

Blue cone monochromacy: causative mutations and associated phenotypes.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Childhood-onset Leber hereditary optic neuropathy

artículo científico publicado en 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 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. ⬇️

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2010

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2006

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Progressive cone dystrophy associated with mutation in CNGB3.

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Retinal Structure in RPE65-Associated Retinal Dystrophy

scientific article published on 01 April 2020

Retinal gene therapy

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Retinal vein occlusion and angle closure: a retrospective case series

artículo científico publicado en 2010

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)

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

The cone dysfunction syndromes

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2022

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Lista de obras de

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 ⬇️