Results 81 to 90 of about 9,124 (223)
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 +6 more
wiley +1 more source
ChildrenBackground/Objectives: A direct link between sensory processing disorder (SPD) and strabismus has not been systematically investigated, though prior studies suggest sensory modulation may influence visual behaviors. Traditional approaches view strabismus
Mirjana Bjeloš +4 more
doaj +1 more source
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
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]
, 2017 Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F +12 more
core +1 more source
A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy [PDF]
, 2017 NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity ...
Adackapara +4 more
core +2 more sources
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background This retrospective multicenter longitudinal analysis analysed the loss trajectory of best recorded visual acuity (BRVA) and Goldmann visual field (GVF) in RPGR‐associated retinal degeneration (RPGR‐RD). Methods Patients with genetically confirmed RPGR‐RD were classified into rod‐cone (RC), cone/cone‐rod (CR) and female‐carrier ...
Bela J. Parekh +52 more
wiley +1 more source
Pattern Dystrophy of the Macula in a Case of Steinert Disease [PDF]
, 2013 IntroductionMyotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.Case ReportA 41-year-old female with type 1 myotonic dystrophy ...
Dolz-Marco, Rosa +4 more
core +2 more sources
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 +3 more
wiley +1 more source
A nonhuman primate model of inherited retinal disease. [PDF]
, 2019 Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O +21 more
core
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. [PDF]
, 2017 BACKGROUND: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders.
Arno, Gavin +14 more
core +1 more source