Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.

Conclusions: This is probably the first case report with a novel mutation from Russia associated with CSNB1A. PMID: 31826698 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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Conclusions: Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in TRPM1-associated CSNB. The associated myopia was found to be mainly axial, which has not been described previously. The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopamine signaling and amacrine cell dysfunction. PMID: 31908403 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
Abstract Myopia is an increasingly common condition that is associated with significant costs to individuals and society. Moreover, myopia is associated with increased risk of glaucoma, retinal detachment and myopic maculopathy, which in turn can lead to blindness. It is now well established that spending more time outdoors during childhood lowers the risk of developing myopia and may delay progression of myopia. There has been great interest in further exploring this relationship and exploiting it as a public health intervention aimed at preventing myopia in children. However, spending more time outdoors can have...
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Br J Ophthalmol Source Type: research
The actual numbers of people blind or with poor vision continue to increase despite so excellent progress that is being made in reducing the prevalence or percentage of people affected. More attention is required to provide quality outcomes for cataract surgery, prevent and manage myopia, detect and treat diabetic retinopathy, glaucoma, and age-related macular degeneration (AMD). Although more ophthalmologists are needed to provide this eye care, it is important that ophthalmologists work in effective teams with allied eye health personal to be able to meet the community needs.
Source: Asia-Pacific Journal of Ophthalmology - Category: Opthalmology Tags: Perspectives Source Type: research
Conclusions: Our data suggests that p.(F742C) in CACNA1F is an X-linked founder mutation in Ashkenazi Jews originating in Eastern Europe. This mutation causes a mild-to-moderate icCSNB phenotype, expressed in most female carriers. A targeted test for this variant in suspected patients may initiate diagnostic analysis. Our results highlight the relevance of WES in the clinic, allowing fast and accurate diagnosis for unclear and variable clinical phenotype and in pedigrees with multiple possible inheritance patterns. PMID: 31651202 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
A child receives treatment in the northeastern district of Mymensingh, Bangladesh. Credit: Naimul Haq/IPS By External SourceGENEVA, Oct 8 2019 (IPS) A staggering 2.2 billion people already suffer from eye conditions and visual impairment today, but the global need for eye care is set to increase “dramatically”, with lack of exercise a key factor, the UN health agency said on Tuesday, unveiling its first ever report on vision across the world. While welcoming recent successes in eliminating common conditions such as trachoma in eight countries, the World Health Organization (WHO) highlighted evidence indicating ...
Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Global Headlines Health TerraViva United Nations Source Type: news
CONCLUSIONS: Our study suggests lower BW within the normal range is causally associated with a more myopic refractive error. However, the impact of the causal effect was modest (range 1.00 D covering approximately 95% of the population). PMID: 31097437 [PubMed - as supplied by publisher]
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Br J Ophthalmol Source Type: research
CONCLUSION: A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP. PMID: 31033374 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Discussion Nystagmus is periodic eye movement that is involuntary where there is a slow drift of fixation. The slow drift can be followed by a fast saccade back to fixation. The pathological movement is the slow phase, but nystagmus is described by the fast phase (i.e. horizontal nystagmus, vertical nystagmus). Spasmus nutans (SN) is a movement disorder that is rare. The classic triad includes nystagmus, head bobbing or titubation, and torticollis, with these problems being in the absence of any ophthalmological or neurological condition. Onset is in the first year of life but ranges from 6-36 months. Time to resolution ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Discussion Nystagmus is periodic eye movement that is involuntary where there is a slow drift of fixation. The slow drift can be followed by a fast saccade back to fixation. The pathological movement is the slow phase, but nystagmus is described by the fast phase (i.e. horizontal nystagmus, vertical nystagmus). Spasmus nutans (SN) is a movement disorder that is rare. The classic triad includes nystagmus, head bobbing or titubation, and torticollis, with these problems being in the absence of any ophthalmological or neurological condition. Onset is in the first year of life but ranges from 6-36 months. Time to resolution ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Authors: Hamed SA Abstract INTRODUCTION: Ocular dysfunctions and toxicities induced by antiepileptic drugs (AEDs) are rarely reviewed and not frequently received attention by treating physicians compared to other adverse effects (e.g. endocrinologic, cognitive and metabolic). However, some are frequent and progressive even in therapeutic concentrations or result in permanent blindness. Although, some adverse effects are non-specific, others are related to the specific pharmacodynamics of the drug. Areas covered: This review was written after detailed search in PubMed, EMBASE, ISI web, SciELO, Scopus and Cochrane Ce...
Source: Expert Review of Clinical Pharmacology - Category: Drugs & Pharmacology Tags: Expert Rev Clin Pharmacol Source Type: research
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