A5011225567- Retinal Development and Disorders
- Retinopathy of Prematurity Studies
- Ubiquitin and proteasome pathways
- Neurological diseases and metabolism
- Cerebrovascular and genetic disorders
- Wnt/β-catenin signaling in development and cancer
- Retinal and Macular Surgery
- Retinal Diseases and Treatments
- Connexins and lens biology
- Cell Adhesion Molecules Research
- Neonatal and fetal brain pathology
- Corneal surgery and disorders
- Hedgehog Signaling Pathway Studies
- Ethics in Clinical Research
- Neonatal Respiratory Health Research
- CRISPR and Genetic Engineering
- Preterm Birth and Chorioamnionitis
- Congenital Ear and Nasal Anomalies
- Retinal and Optic Conditions
- Ophthalmology and Visual Impairment Studies
- Genetics and Neurodevelopmental Disorders
- Ocular Disorders and Treatments
- Genomics and Rare Diseases
- Caveolin-1 and cellular processes
- Hereditary Neurological Disorders
Dalhousie University
2016-2025
Izaak Walton Killam Health Centre
2002-2025
Grace (Canada)
2000
Johns Hopkins University
1996
Retinal detachment with avascularity of the peripheral retina, typically associated familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well dysplasia, mental retardation (CDMMR). Ophthalmologists should be aware range presentations for KIF11 because phenotypic distinction between FEVR MLCRD/CDMMR portends management implications patients these conditions.To...
The aim of this study is to assess the role Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease.Tissue samples were collected for DNA extraction automated sequencing two coding exons FZD4 both directions. Cases carrying a mutation demonstrating extreme disease severity selected direct all LRP5, NDP TSPAN12. Clinical data obtained purpose identifying genotype-phenotype correlations.68 probands diagnosed as having autosomal dominant or sporadic FEVR. Eleven...
We have optimized point mutation knock-ins into zebrafish genomic sites using clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 reagents and single-stranded oligodeoxynucleotides. The efficiency of was assessed by a novel application allele-specific polymerase chain reaction confirmed high-throughput sequencing. Anti-sense asymmetric oligo design found to be the most successful optimization strategy. However, cut site proximity phosphorothioate modifications also greatly...
Purpose: To describe a severe familial exudative vitreoretinopathy (FEVR) phenotype seen in infancy that resembles persistent fetal vasculature (PFV) caused by mutations the FZD4 gene two pedigrees with high intrafamilial variability. Methods: Three infants presented features compatible bilateral PFV. Eye examinations from affected children and their relatives were reviewed retrospectively (follow-up:18 months-9 years). Mutation screening was performed using direct sequencing of FZD4, LRP5...
To determine whether mutations in the FZD4 gene are a risk factor for developing severe ROP.Three Canadian tertiary care centers recruited premature infants prospectively and retrospectively, assigned affectation status based on maximum degree of severity ROP recorded both eyes. Mutation screening was performed using direct sequencing. All sequence changes were evaluated functional significance.Two novel (Ala370Gly or Lys203Asn) identified two from group (n=71). No mutation detected mild to...
Purpose: To investigate the gene variant spectrum in patients with familial exudative vitreoretinopathy (FEVR). Methods: Probands clinically diagnosed FEVR and their relatives were enrolled clinical information DNA collected. An expanded panel was used, including six recognized genes (FZD4, NDP, LRP5, TSPAN12, ZNF408, CTNNB1) 19 previously associated ocular features overlapping (FEVR-associated genes). Variants identified using targeted next-generation sequencing and/or Sanger analyzed...
We have ascertained a large number of individuals and families with exfoliation syndrome in order to clarify the disorder's mode inheritance. Patients their relatives were recruited from practices group ophthalmologists Maritime Canada. The degree which subjects affected was graded according standardized 1–4-point clinical scheme. Pedigrees constructed information supplied by family members genealogical sources. A total 782 patients participated, whom 467 definitely affected. mean age males...
Due to resource restrictions related the COVID-19 pandemic, many pediatric patients are facing substantial delays for surgery, potentially resulting in additional distress caregivers. We aimed assess experiences and psychosocial of parents during as they relate waiting combined effects both events. The was a cross-sectional qualitative study. Parents with children who faced treatment initial wave pandemic elective, non-emergent procedures across variety surgical specialties were recruited....
Background In families segregating a monogenic genetic disorder with single disease gene introduction, patients share mutation-carrying chromosomal interval identity-by-descent (IBD). Such shared or haplotype, surrounding the actual pathogenic mutation, is typically detected and defined by multipoint linkage phased haplotype analysis using microsatellite SNP genotype data. High-density data presents computational challenge for conventional analyses. A novel non-parametric method termed...
<b><i>Objective:</i></b> We explore the stability of parental attitudes to ethical issues raised by return genomic research results. <b><i>Methods:</i></b> A 19-item questionnaire was mailed participants in a large genome consortium 18 months following baseline survey. describe (a) sharing results, (b) endorsement children research, (c) responsibilities researchers, and (d) extended family. also their experience receiving...
Abstract Background Familial exudative vitreoretinopathy (FEVR) is a rare congenital disorder characterized by lack of blood vessel growth to the periphery retina with secondary fibrovascular proliferation at vascular‐avascular junction. These structurally abnormal vessels cause leakage and hemorrhage, while fibroproliferative scarring results in retinal dragging, detachment blindness. Mutations FZD4 gene represent one most common causes FEVR. Methods A loss function mutation resulting from...
The birth of a bilaterally blind child is catastrophic for families and challenging diagnostic management problem ophthalmologists. Early identification the underlying cause its genetic basis helps initiate possible treatment, delineate prognosis, identify risks future pregnancies. In some cases, an early diagnosis can also influence treatment other family members. We report two sisters with bilateral retinal detachment retro-lental masses from no detectable NDP or FZD4 mutations. They were...
Mutations in genes that code for components of the Norrin-FZD4 ligand-receptor complex cause inherited childhood blinding disorder familial exudative vitreoretinopathy (FEVR). Statistical evidence from studies patients at risk acquired disease retinopathy prematurity (ROP) suggest rare polymorphisms these same increase developing severe ROP, implying decreased activity predisposes to more ROP. To test this hypothesis, we measured development and recovery wild type Fzd4 heterozygous mice...
Purpose Prematurely born children are at risk of numerous complications that affect the visual system. Retinopathy prematurity (ROP) and cerebral impairment (CVI) among two major causes childhood blindness in industrialized nations, large countries with emerging economies seeing increasing from ROP alone, adding to burden disease worldwide. The purpose this paper is review long-term impacts prematurity, CVI on vision who were preterm.
Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates potential role beyond ocular abnormalities for gene patients with FEVR.To evaluate of symptoms those associated FEVR through patient biallelic FZD4.This case series included DNA testing and phenotyping 1 proband her parents, combined signaling assays, to determine association patient-derived compound heterozygous on biologic...
Primary retinal telangiectasis or Coats' disease is a non-hereditary vascular abnormality consisting of incompetent telangiectatic and aneurysmal vessels. It characteristically found unilaterally in boys occasionally may be associated with other systemic disorders. The authors report the first case primary concomitant diffuse central nervous system venous abnormality.