Researchers at the Department of Genetics & Genomics, Instituto de Investigacíon Sanitaria-Fundacíon Jiménez Díaz Madrid, have reported a recent study characterizing a mutational and phenotypic… Read More »Mutational and phenotypic spectrum in RPE65 patients including seven novel variants among inherited retinal dystrophies (IRD).
Researchers, at the Henan Clinical Research Centre for Ophthalmic Diseases, Zhengzhou University, have reported a recent study identifying novel gene variants of the “REEP6” gene,… Read More »Three novel gene variants (REEP6) found within a population of autosomal recessive retinitis pigmentosa (arRP) patients
The researchers at the Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, have reported that the five visual function parameters commonly… Read More »Intermediate Age-Related Macular Degeneration (iAMD) has demonstrated useful comparisons between visual function tests within a research setting
Researchers at Taipei Medical University, Taiwan have reported on an association of retinal diseases and Parkinson’s disease (PD), including a potential reversal of the risk… Read More »An association of retinal diseases and Parkinson’s disease (PD) may reverse the risk following dopamine supplementation
Researchers reviewing the UK Biobank data have published an association of ophthalmic and systemic conditions with incident dementia. According to their assessment, a multivariable-adjusted hazard… Read More »UK Biobank analysis has shown an association of certain ophthalmic conditions (AMD, cataract & diabetes related eye disease) with incident dementia
A recent research presentation from a clinical ophthalmology group in UCLA has reported that “e-cigarette” smoking is associated with visual impairment in the Behavioral Risk… Read More »Survey data on E-cigarette use from >1 million participants shows concerns about visual impairment.
A clinical research team, based at the Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, Oxford, has published a report on the treatment of RNAi effectors… Read More »Atypical RNA interference effectors – mirtrons – may be applicable for replacement genes treating dominant retinitis pigmentosa (RP).
Researchers led at the Institute for Research in Ophthalmology, Poznan, Poland, have compiled bibliographic data from the 100 most-cited papers on age-related macular degeneration (AMD),… Read More »The 100 most-cited papers on AMD have identified the role of genetics in the pathogenesis of the disease
Researchers based at the Università degli Studi della Campania “Luigi Vanvitelli”, Naples, Italy, have reported a multicentric longitudinal study with mutations in the CEP290 gene.… Read More »Non-syndromic subjects with mutations in the CEP290 gene have been identified among an Italian cohort of 32 IRD patients
Researchers based at the School of Genetics & Microbiology, Trinity College, Dublin, have reported significant progress on next-generation sequencing (NGS) applications on a range of… Read More »Next-generation sequencing strategies have increased the proportion of resolved diagnoses for several IRDs.