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Since its first description in 1872, there has been a lively academic debate about the natural history of choroideremia. Due to the low prevalence of choroideremia, interest in this discussion has been limited to subspecialists. However, the current development of novel, potentially disease-modifying therapies has sparked the attention of a larger professional audience. This review summarises the literature around the natural history of the disease and illustrates its key aspects using a simple two-stage mo...
Hereditary retinal degenerative diseases are mostly diseases of the photoreceptors and/or the retinal pigment epithelium, which lead to loss of vision or even complete blindness. To this day, these diseases are mostly untreatable and represent a considerable burden for patients and their relatives. This review article highlights some of the challenges that arise in the development of new therapies for inherited retinal degeneration, in particular the problem of the enormous genetic heterogeneity of these di...
Patient-reported outcome measures have been met with increasing interest, particularly in clinical research. They are used to capture the patient-relevant impact of an intervention or a loss of function. In patients with loss of vision, vision-related quality of life is assessed in order to quantify the impact of visual impairment in everyday life. When using quality of life instruments, psychometric characteristics - such as reliability, validity and responsiveness - are of great importance to ensure that ...
Inherited retinal diseases (IRDs) may be caused by variations in genes affecting the connecting cilium of photoreceptor cells and intraflagellar transport, manifested as ciliopathies. is frequently mutated in non-syndromic, but also syndromic IRDs. In preparation for clinical treatment trials, detailed phenotypic work-up including longitudinal follow-up is mandatory.
Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of the present study was to determine the genetic condition related to the phenotype in patients with diverse inherited optic neuropathies.
Optic nerve sheath meningioma (ONSM) is a rare benign tumour of the optic nerve sheath that can lead to blindness if untreated. Radiotherapy is commonly accepted as being the treatment of choice. We conducted a retrospective monocentric study to assess the effect of radiotherapy on visual outcomes and tumour control in patients with ONSM.
The purpose of this study was to report the efficiency and safety of intravitreal aflibercept for the treatment of cystoid macular edema (CME) secondary to central retinal vein occlusion (CRVO).
Pars plana vitrectomy (PPV) allows the treatment of a multitude of vitreoretinal disorders involving the vitreous, the retina or the choroid. There is a multitude of possible surgical sequences: peeling maneuvers, liquid perfluorocarbone, removal of traction and media opacities, retinopexy or destructive photocoagulation, and as ultima ratio, retinotomies and retinectomies. The intravitreal tamponade serves as a substitute in the vitreous cavity, allowing photoreceptors and retinal pigment epithelium (RPE) ...
Buckling techniques are used for rhegmatogenous (break-induced) retinal detachment. The aim is to achieve a functional closure of the retinal breakwith permanent retinal attachment by scleral indentation and coagulation of retinal holes. The surgery is primarily extraocular. The use of different buckling methods depends on various factors. The success rates are high at 54 - 97% after the initial procedure, but decrease as the macula is detached. When the possibilities of the scleral buckling procedures ...
In 2015, the first revision of the international classification of corneal dystrophies (IC3D) has been published. According to this latest version of the IC3D the dystrophies of the cornea are divided into · epithelial and subepithelial dystrophies,. · epithelial-stromal TGFBI dystrophies,. · stromal dystrophies, and. · Descemet-membrane and endothelial dystrophies.. This article summarizes the epithelial and subepithelial dystrophies of the cornea, which, according to IC3D are the following: · epithel...
Today, magnetic resonance imaging (MRI) is considered the diagnostic tool of choice for eye and orbital pathologies. In this article, the MR image characteristics of relevant pathologies are illustrated with case-based examples in the context of clinical findings. Vascular pathologies (such as capillary and cavernous hemangioma), inflammatory diseases (such as endocrine orbitopathy), and neoplasms (such as lymphoma, uveal melanoma, retinoblastoma, and ocular/orbital metastasis) are described. Additionally, ...
To assess the visual performance, clinical and quality of life outcomes, and subjective patient satisfaction after implantation of a new refractive/extended depth of focus (EDOF) hybrid intraocular lens (IOL).
Cytomegalovirus (CMV) can cause recurrent or chronic hypertensive anterior uveitis in immunocompetent patients. Antiviral treatment options include topical ganciclovir or systemic valganciclovir. However, recurrences are common after stopping treatment. We evaluated the efficacy of long-term topical ganciclovir therapy as prophylaxis for recurrent activity.
The Heimann-Bielschowsky phenomenon (HBP) is an unusual form of monocular vertical pendular nystagmus and is usually asymptomatic. It always occurs in an eye with longstanding, profound visual loss. Reports of HBP are few and HBP is probably underdiagnosed. Recognition of HBP could prevent unnecessary and potentially harmful investigations. The purpose of this study was to report a series of patients with HBP and to summarise the international literature on the subject in order to better define the clinical...
Evaluation and comparison of the ocular phenotype in patients diagnosed with tuberous sclerosis complex (TSC). Analysis of ocular complications during follow-up.