Research Topics
Genomes and Genes | Michel MichaelidesSummaryAffiliation: University College London Country: UK Publications
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Publications
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2Mala Subash
UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Br J Ophthalmol 96:719-22. 2012..To describe the clinical features of a case series of patients with unilateral vitelliform maculopathy and the results of screening BEST1 and PRPH2 for disease-causing mutations...- A prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (BOLT study) 12-month data: report 2Michel Michaelides
Department of Medical Retina, Moorfields Eye Hospital, London, United Kingdom
Ophthalmology 117:1078-1086.e2. 2010.... - The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophyMichel Michaelides
UCL Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 51:4771-80. 2010..To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene... - Integrity of the cone photoreceptor mosaic in oligocone trichromacyMichel Michaelides
UCL Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 52:4757-64. 2011..It has been proposed that these patients have a reduced number of normal functioning cones (oligocone). This paper has sought to evaluate the integrity of the cone photoreceptor mosaic in four patients previously described as having OT... - Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family membersMichel Michaelides
Moorfields Eye Hospital, London, England
Arch Ophthalmol 126:320-8. 2008..3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features... - Glaucoma following congenital cataract surgery--the role of early surgery and posterior capsulotomyMichel Michaelides
Department of Paediatric Ophthalmology and Strabismus, Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK
BMC Ophthalmol 7:13. 2007..To determine the rate of glaucoma following congenital cataract surgery at Moorfields Eye Hospital (MEH), and to investigate potential risk factors for glaucoma in our case series... - Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndromeMichel Michaelides
Moorfields Eye Hospital, and Institute of Ophthalmology, University College London, London, United Kingdom
Am J Ophthalmol 141:418-20. 2006..To present the detailed phenotype of a subject with MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and to investigate the underlying molecular genetic basis... - "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiologyAnthony G Robson
Department of Electrophysiology, Moorfields Eye Hospital, London, UK
Retina 30:51-62. 2010..The purpose of this study was to characterize the clinical, electrophysiologic, and genetic features in "cone dystrophy with supernormal rod electroretinogram (ERG).".. - 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 1Michel Michaelides
Department of Medical Retina, Moorfields Eye Hospital, London, UK
Retina 30:781-6. 2010.... - Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng Li
University College London UCL Institute of Ophthalmology, London EC1V 9EL, UK
Am J Hum Genet 85:711-9. 2009..These findings suggest an important role of this specific cation channel for the normal function of ON bipolar cells in the human retina... - Phenotypic variation in enhanced S-cone syndromeIsabelle Audo
Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, United Kingdom
Invest Ophthalmol Vis Sci 49:2082-93. 2008..To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation... - Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophyMichel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Ophthalmology 112:1442-7. 2005..To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability... - X-linked cone dysfunction syndrome with myopia and protanopiaMichel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Ophthalmology 112:1448-54. 2005..It is therefore possible that the cone dysfunction may have a genetic origin different from that of the dichromacy... - Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and updateAnthony G Robson
Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London EC1 2PD, UK
Doc Ophthalmol 116:79-89. 2008..To examine the presence and functional significance of annular fundus autofluorescence abnormalities in patients with different retinal dystrophies... - X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner
UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Am J Hum Genet 87:26-39. 2010..Mutations in the LW/MW cone opsin gene array can, therefore, lead to a spectrum of disease, ranging from color blindness to progressive cone dystrophy (XLCOD5)... - Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS geneMichel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Ophthalmology 112:1592-8. 2005..To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability... - Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunctionMichel Michaelides
Moorfields Eye Hospital, City Road, and Instiute of Ophthalmology, University College London, United Kingdom
Invest Ophthalmol Vis Sci 47:3085-97. 2006..These findings are helpful for advice regarding prognosis and for genetic counseling. The findings established that the presence of peripapillary deposit is highly likely to indicate that a patient carries the R345W mutation... - An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5Michel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Invest Ophthalmol Vis Sci 44:2178-83. 2003..To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus... - Blue cone monochromacy: causative mutations and associated phenotypesJessica C Gardner
Institute of Ophthalmology, University College London, London, UK
Mol Vis 15:876-84. 2009..To perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease... - Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer
Division of Molecular Genetics, University College London, UK
Invest Ophthalmol Vis Sci 46:1891-8. 2005.... - High-resolution optical coherence tomography imaging in KCNV2 retinopathyPanagiotis I Sergouniotis
Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK
Br J Ophthalmol 96:213-7. 2012.... - Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humansHuimin Wu
University College London, Institute of Ophthalmology, London, United Kingdom
Am J Hum Genet 79:574-9. 2006.... - Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia)Michel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom
Ophthalmology 117:120-127.e1. 2010.... - An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4Michel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Invest Ophthalmol Vis Sci 44:1657-62. 2003..To describe the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus... - Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophyFrancesca I Arrigoni
Department of Vascular Physiology, UCL Institute of Child Health, London, UK
Eur J Hum Genet 19:131-7. 2011..We also noted renal infections, haematuria and recurrent miscarriages possibly reflecting consequences of abnormal tubular modelling. Further studies are needed to confirm these findings... - Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutationAndrew Scott
Moorfields Eye Hospital, City Road, London, United Kingdom
Am J Ophthalmol 143:346-8. 2007..To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched (PTCH)... - Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basisMichel Michaelides
Institute of Ophthalmology, University College London, UK
Surv Ophthalmol 51:232-58. 2006..This improved knowledge of disease mechanisms has raised the possibility of future treatments for these disorders, for which there are no specific therapies available at the present time... - Progressive cone dystrophy associated with mutation in CNGB3Michel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Invest Ophthalmol Vis Sci 45:1975-82. 2004..To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy... - Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationSanjay M Sisodiya
Department of Clinical and Experimental Epilepsy, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
J Med Genet 44:373-80. 2007..RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function... - Residual cone vision without alpha-transducinAndrew Stockman
Institute of Ophthalmology, University College London, London, UK
J Vis 7:8. 2007.... - Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a genePrateek K Buch
University College London Institute of Ophthalmology, London, United Kingdom
PLoS ONE 6:e18089. 2011..Importantly, this knock-in mutant mouse has many features in common with the human disease, thereby making it an excellent model to further probe disease pathogenesis and investigate therapeutic interventions... - X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment DevelopmentTom R Webb
Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
Am J Hum Genet 90:247-59. 2012..Our findings reveal an unexpected requirement for ventroptin during anterior segment development and the consequences of a lack of function in the retina and brain... - Optical coherence tomography: an assessment of current training across all levels of seniority in 8 ophthalmic units in the United KingdomWai H Chan
Department of Ophthalmology, St Thomas Hospital, London, SE1 7EH, UK
BMC Ophthalmol 6:33. 2006..The aim of this study was to determine the clinical competence in OCT image interpretation of ophthalmologists in different subspecialties and grades... - Guanylate cyclases and associated activator proteins in retinal diseaseDavid M Hunt
UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Mol Cell Biochem 334:157-68. 2010..In a similar fashion to the disease mechanism for the dominant GUCY2D mutations, these mutations generally alter the sensitivity of the cyclase to inhibition as Ca(2+) levels rise following a light flash... - Skills acquisition and assessment after a microsurgical skills course for ophthalmology residentsDaniel G Ezra
Department of Education Moorfields Eye Hospital, London, United Kingdom
Ophthalmology 116:257-62. 2009.... - A randomized controlled trial comparing everting sutures with everting sutures and a lateral tarsal strip for involutional entropionMarius A Scheepers
Charing Cross and Western Eye Hospitals, London, United Kingdom
Ophthalmology 117:352-5. 2010..To determine whether there is a statistically significant difference in the surgical outcome of everting sutures (ES) alone versus everting sutures with a lateral tarsal strip (ES+LTS) in the treatment of involutional entropion... - Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan
Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom
PLoS ONE 7:e32330. 2012..This data suggests that there are patients who have a reasonable window of opportunity for gene therapy in childhood... - Retinal vein occlusion and angle closure: a retrospective case seriesMichel Michaelides
UCL Institute of Ophthalmology, London, UK
J Glaucoma 19:643-9. 2010..To describe a series of patients who have sustained a retinal vein occlusion (RVO) and also have primary angle-closure (PAC)... - Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceZhenglin Yang
Department of Ophthalmology and Visual Science, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, USA
J Clin Invest 118:2908-16. 2008..Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration...