Long-Term Results after DMEK (Descemet’s Membrane Endothelial Keratoplasty) [PDF]
Ziel der Arbeit: Evaluation der langfristigen Ergebnisse sowie der Komplikationsrate nach Descemet’s Membran Endothelialen Keratoplastik (DMEK) Methoden: Eine cross-sectional, Fall-Serien Studie.
Wardeh, Rima
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Inherited retinal dystrophies [PDF]
Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations.
openaire +1 more source
Intravitreal Administration of Human Bone Marrow CD34+ Stem Cells in a Murine Model of Retinal Degeneration. [PDF]
PurposeIntravitreal murine lineage-negative bone marrow (BM) hematopoietic cells slow down retinal degeneration. Because human BM CD34+ hematopoietic cells are not precisely comparable to murine cells, this study examined the effect of intravitreal human
Annett, Geralyn +10 more
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Clinical trials in retinal dystrophies
Research development is burgeoning for genetic and cellular therapy for retinal dystrophies. These dystrophies are the focus of many research efforts due to the unique biology and accessibility of the eye, the transformative advances in ocular imaging technology that allows for in vivo monitoring, and the potential benefit people would gain from ...
Grob, Seanna R. +3 more
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Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed +11 more
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Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism
We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p.
Mirjana Bjeloš +4 more
doaj +1 more source
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. [PDF]
This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes.
Berta Almoguera +19 more
doaj +1 more source
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study [PDF]
The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we
A Hagiwara +52 more
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The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Registry
Mirjana Bjeloš +4 more
doaj +1 more source
The article highlights the modern aspects of etiology and pathogenesis of the development of retinal dystrophies associated with myopia and age-related macular degeneration.
I. B. Alekseev +2 more
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