A5079063384- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Retinal and Macular Surgery
- Photoreceptor and optogenetics research
- Intraocular Surgery and Lenses
- Retinopathy of Prematurity Studies
- Retinal Imaging and Analysis
- Retinoids in leukemia and cellular processes
- Connexins and lens biology
- Energetic Materials and Combustion
- Cellular transport and secretion
- Drug-Induced Ocular Toxicity
- Neuroscience and Neuropharmacology Research
- Ocular Diseases and Behçet’s Syndrome
- Ocular Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- RNA regulation and disease
- Electromagnetic Launch and Propulsion Technology
- Mitochondrial Function and Pathology
- melanin and skin pigmentation
- Advanced biosensing and bioanalysis techniques
- Cell Adhesion Molecules Research
- Genetic Neurodegenerative Diseases
Lund University
2015-2025
University of Gothenburg
2024
Skåne University Hospital
2011-2023
University of Oulu
2017
McGill University Health Centre
2013
Massachusetts Eye and Ear Infirmary
2013
Harvard University
2013
Swedish Defence Research Agency
1999-2011
Ophthalmology Associates (United States)
2009
Uppsala University Hospital
2008
X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few the at least 28 different syndromes associated with hearing impairment have been characterised molecular level. In 1960, large Norwegian family was reported early onset progressive sensorineural deafness, which indexed in McKusick as DFN-1, 304700. No symptoms were described that time. This has restudied clinically. Extensive neurological, neurophysiological, neuroradiological, and biochemical, well...
Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of function humans cause achromatopsia, an autosomal recessive trait, characterized by low photophobia, discrimination. Herein we report the identification mutations PDE6C gene encoding catalytic subunit photoreceptor phosphodiesterase as achromatopsia. Moreover, show that spontaneous mouse mutant cpfl1 features rapid degeneration represents...
To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in X-linked degeneration genes RPGR and RP2.Simplex males were defined as no known affected family members. Patients excluded if they had a history parental consanguinity. Blood samples from total 214 diagnosis collected for genetic analysis. The screened RP2 by direct sequencing PCR-amplified genomic DNA.We...
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic syndromic forms RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies among the most promising approaches identify RD. We screened large cohort patients comprising 89 independent cases families with various subforms applying NGS platforms. While mutation...
Objective: To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations XLRS1 gene.Methods: Thirty 7 were examined.The genotype was determined by molecular genetics, which identified 6 known and 1 novel mutation (exon 5, 489 G→T).Ophthalmologic examination included full-field electroretinogram (ERG) recordings.Results: The fundus appearance showed marked variations between, as well within, families mutations.The ERG demonstrated typical reduction...
The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation a gene therapy trial.Thirty-six (age 7-56 years) complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment morphology by fundus autofluorescence spectral-domain optical coherence tomography (SD-OCT).Mean best-corrected visual acuity 0.78 ± 0.14 logMAR. Color vision tests...
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...
SummaryThe RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis (XLRP), has been shown to be mutated in 10%–15% European XLRP patients. We have examined mutations a cohort 80 affected males from apparently unrelated families, by direct sequencing PCR-amplified products genomic DNA. Fifteen different putative disease-causing were identified 17 families; these include four nonsense mutations, one missense mutation, six...
<h3>AIMS</h3> To describe the variation of phenotype within families with several individuals Bardet–Biedl syndrome. <h3>METHODS</h3> The phenotypes affected siblings in 11 Scandinavian were compared two or more members who had at least three features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without dystrophy excluded. <h3>RESULTS</h3> Intrafamilial expressivity features abnormal radiograms extremities, short stature, paraplegia, dental...
Purpose: To characterize the phenotype of members a Swedish family with Best macular dystrophy and two distinct mutations in VMD2. Methods: Venous blood samples were obtained from six screened for Six individuals examined clinically, four whom further investigated full-field electroretinography (ERG), electro-oculography (EOG), multifocal (mfERG), optical coherence tomography (OCT). Results: The VMD2 resulting Arg141His Tyr29stop identified members. Two harbored both mutations, one mutation...
Mutations in the gene encoding catalytic subunit of cone photoreceptor phosphodiesterase (PDE6C) have been recently reported patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset dysfunction. Here we present results a comprehensive study on PDE6C mutations including mutation spectrum, its prevalence large cohort ACHM/cone dysfunction patients, clinical phenotype functional characterization mutant proteins. Twelve affected from seven independent families segregating...