A5047568972- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Retinal and Optic Conditions
- Retinal Imaging and Analysis
- Connexins and lens biology
- Glaucoma and retinal disorders
- Photoreceptor and optogenetics research
- Retinoids in leukemia and cellular processes
- Ocular Disorders and Treatments
- melanin and skin pigmentation
- Neuroscience and Neural Engineering
- Ocular and Laser Science Research
- Corneal Surgery and Treatments
- Retinal and Macular Surgery
- Corneal surgery and disorders
- Circadian rhythm and melatonin
- Genetics and Neurodevelopmental Disorders
- Retinopathy of Prematurity Studies
- Cellular transport and secretion
- RNA regulation and disease
- Neuroinflammation and Neurodegeneration Mechanisms
- Wnt/β-catenin signaling in development and cancer
- Ubiquitin and proteasome pathways
- Ophthalmology and Visual Impairment Studies
- Ocular Diseases and Behçet’s Syndrome
University of British Columbia
2010-2024
University of Plymouth
2007-2013
Imperial College London
1998-2011
Western Eye Hospital
1998-2008
Charing Cross Hospital
2003-2008
Imperial College Healthcare NHS Trust
2008
Western General Hospital
1999-2005
University College London
1995-2000
Moorfields Eye Hospital
1995-2000
University of Liverpool
1993-1999
As the ear has dual functions for audition and balance, eye a role in detecting light wide range of behavioral physiological separate from sight [1Czeisler C.A. Shanahan T.L. Klerman E.B. Martens H. Brotman D.J. Emens J.S. Klein T. Rizzo 3rd, J.F. Suppression melatonin secretion some blind patients by exposure to bright light.N. Engl. J. Med. 1995; 332: 6-11Crossref PubMed Scopus (532) Google Scholar, 2Ruberg F.L. Skene Hanifin J.P. Rollag M.D. English Arendt Brainard G.C. Melatonin...
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. retinal-specific guanylate cyclase (RETGC-1), which maps this genetic and was implicated in Leber's congenital amaurosis, screened for mutations family a panel of small families individuals with various cone phenotypes. A missense mutation (E837D) identified affected members the family, as well second (R838C) three other dystrophy. RETGC-1 is only fourth be first report gene.
Developing new ways of delivering cells to diseased tissue will be a key factor in translating cell therapeutics research into clinical use. Magnetically targeting enables delivery significant numbers areas specific organs. To demonstrate feasibility neurological tissue, we targeted magnetically the upper hemisphere rodent retina. Rat mesenchymal stem (MSCs) were magnetized using superparamagnetic iron oxide nanoparticles (SPIONs). In vitro studies suggested that magnetization with...
We report the mapping of a sixth locus for autosomal dominant retinitis pigmentosa (adRP) to 19q13.4. After total genome linkage search using over 300 markers in single large pedigree, marker loci on long arm chromosome 19 showed significant with disease locus. Since information used this study was derived from two different maps, we established genetic distances between relevant so that could be combined both maps. A conventional three point analysis adRP phenotype and D19S180 D19S214 gave...
Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital dystrophy. We have performed genetic linkage analysis on five-generation British Pedigree. Twopoint showed significant with nine microsatellite marker loci mapping to chromosome 6q. Multipoint gave maximum lod score of 11. 8 (θ = 0. 05) between D6S249 and D6S283. This region overlaps that which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given range differences in...
Tylosis (focal non-epidermolytic palmoplantar keratoderma; NEPPK) is associated with esophageal cancer in three families, two of which contain six or seven generations. The causative locus, the tylosis (TOC) gene, has been localized to a small region on chromosome 17q25. Recent loss heterozygosity (LOH) studies have indicated role for TOC gene sporadic squamous cell and Barrett's adenocarcinoma. We now integrated genetic physical mapping data from region, based microsatellite markers...
Using molecular genetics as the basis for diagnosis, to assess phenotype in family originally described having dominantly inherited Doyne honeycomb retinal dystrophy (DHRD) linked chromosome 2p16.Clinical examination including fluorescein angiography was undertaken 107 members. Nine affected patients underwent electroretinography, perimetry, dark adaptometry, color-contrast sensitivity measurement, and autofluorescent fundus imaging.The disease-associated haplotype used allocate disease...
Sorsby's fundus dystrophy (SFD) has been mapped to a genetic interval of 8 cM between loci D22S275 and D22S278. A total 15 families, unrelated on the basis genealogy expressing SFD phenotype were identified from large data base eye disease families originating diverse parts British Isles. The identification same Ser181Cys mutation cosegregating with in each family led us consider hypothesis founder effect being present. In all studied, relatively infrequent allele (occurring just 11% control...
Abstract Syndromic Hirschsprung disease has been associated with mutations in ZFHX1B, a Smad‐interacting transcriptional repressor protein. Tissue situ hybridization demonstrated strong expression of ZFHX1B the developing eye, suggesting that some this gene may cause visual loss. However, none reported have an ocular phenotype. We describe patient Down syndrome and high myopia coloboma affecting iris retina. In addition to trisomy 21, novel, de novo heterozygous A G transition exon 8 was...
purpose. To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) phenotypic variability, and (3) extent retinal disease those with a positive molecular diagnosis. methods. Affected individuals underwent ophthalmic examination, digital color fundus photography, autofluorescence (AF) imaging, psychophysical testing automated photopic dark-adapted perimetry fine matrix mapping. Blood...
We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy. Significant to the disease gene was obtained eight marker loci situated chromosome 17p12-p13. A maximum two-point lod score of 5.93 no recombination locus D17S1844. Critical recombinants identified flanking placed between D17S796/D17S938 and D17S954, an interval estimated be 8 cM in size. This new localisation for autosomal dominant dystrophy (CORD6) overlaps regions attributed previously...