Results 71 to 80 of about 10,766 (232)

The Molecular Basis of Retinal Dystrophies in Pakistan [PDF]

Genes, 2014
The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease.
Khan, M.I., Azam, M., Azam, M., Ajmal, M., Collin, R.W.J., Collin, R.W.J., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., Cremers, F.P.M., Cremers, F.P.M., Qamar, R.   +14 more
openaire   +3 more sources

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol, Ana Martínez‐Vacas, David García‐Bernal, Manuel Vidal‐Sanz, María Paz Villegas‐Pérez, Diego García‐Ayuso, Johnny Di Pierdomenico   +6 more
wiley   +1 more source

In-vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function [PDF]

, 2005
To relate in-vivo microscopic retinal changes to visual function assessed with clinical tests in patients with various forms of retinal dystrophies.
Choi, S., Keltner, J., Werner, J. S., Doble, N., Olivier, S., Jones, S., Hardy, J.   +6 more
core   +1 more source

Inherited retinal dystrophies [PDF]

Paediatrics and Child Health, 2020
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

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

A Genotype - Phenotype Study of Childhood Onset Retinal Dystrophies [PDF]

, 2016
Introduction The childhood onset retinal dystrophies comprise a clinically and molecularly heterogeneous group of disorders. To date, sixteen genes have been implicated in the pathogenesis of the spectrum of disorders comprising Leber Congenital ...
Dev Borman, A
core  

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

A Novel Time-Aware Deep Learning Model Predicting Myopia in Children and Adolescents

Ophthalmology Science
Objective: To quantitatively predict children’s and adolescents’ spherical equivalent (SE) by leveraging their variable-length historical vision records. Design: Retrospective analysis.
Ana Maria Varošanec, MD, Leon Marković, MD, Zdenko Sonicki, MD, PhD   +2 more
doaj   +1 more source

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.

, 2008
Contains fulltext : 70666.pdf (Publisher’s version ) (Open Access)Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone outer segments.
Klevering, B.J., Boon, C.J.F., Cremers, F.P.M., Keunen, J.E.E., Hoyng, C.B., Hollander, A.I. den   +5 more
core   +1 more source

Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases

Frontiers in Cell and Developmental Biology, 2018
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist.
Christine L. Xu, Christine L. Xu, Galaxy Y. Cho, Galaxy Y. Cho, Galaxy Y. Cho, Jesse D. Sengillo, Jesse D. Sengillo, Jesse D. Sengillo, Karen S. Park, Karen S. Park, Vinit B. Mahajan, Vinit B. Mahajan, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang   +15 more
doaj   +1 more source