Clinical characteristics and current therapies for inherited retinal degenerations.

Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for therapy of the inherited retinal dystrophies.

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with more than 360 different mutations and more than 670 affected alleles have been associated with CSNB, including genes coding for proteins of the phototransduction cascade, those important for signal transmission from the photoreceptors to the bipolar cells or genes involved in retinoid recycling in the retinal pigment epithelium. This article describes the phenotypic characteristics of different forms of CSNB that are necessary for accurate diagnosis and to direct and improve genetic testing.

A feasibility study of full-field optical coherence tomography for rapid evaluation of EUS-guided microbiopsy specimens.

Background: Rapid on-site evaluation of cytologic specimens is a way of determining the adequacy of fine-needle aspiration (FNA). However, alternatives may be useful when the presence of a cytotechnologist and/or pathologist is not possible.

Objective: To evaluate the feasibility of using full-field optical coherence tomography (FFOCT) for FNA specimen quality assessment.

["En face" anterior segment optical coherence tomography findings in acute corneal hydrops].

Purpose: To study the corneal morphological characteristics of acute hydrops by analyzing anterior segment optical coherence tomography (AS-OCT) "en face" images.

Patients And Methods: Four patients presenting with acute hydrops were examined at different stages, respectively after 1 day, 1 week, 3 weeks and 6 months. All patients had a complete ophthalmic evaluation including "en face" AS-OCT examination.

In vivo confocal microscopy as a novel and reliable tool for the diagnosis of Demodex eyelid infestation.

Aims: Demodex mites are implicated in several ocular surface diseases such as blepharitis, ocular rosacea and dry eye syndrome. Demodex eyelid infestation is classically diagnosed by analysing depilated eyelashes under the light microscope. The use of in vivo confocal microscopy (IVCM) could be an easy way to improve its diagnosis.

Artemis very high frequency digital ultrasound-guided femtosecond laser recut after flap complication.

Incomplete flaps are a relatively uncommon complication of laser-assisted in situ keratomileusis (LASIK) that occur when creation of the corneal flap is interrupted. Further complications can arise if a second flap is created that intersects the original flap interface, resulting in tissue slivers that can lead to more complications and poor visual outcomes. We report the case of a 56-year-old man who underwent LASIK in which an incomplete flap occurred after 45% completion using a mechanical microkeratome with a 160 µm head.

[Acanthamoeba keratitis].

Early diagnosis and appropriate therapy are key elements for a good prognosis in Acanthamoeba keratitis (AK). AK should be considered in any case of corneal trauma complicated by exposure to soil or contaminated water, and in all contact lens (CL) wearers. A presumptive diagnosis of AK can be made clinically and with in vivo confocal microscopy, although a definitive diagnosis requires identification of Acanthamoeba on direct scraping, histology, or identification of Acanthamoeba DNA by polymerase chain reaction (PCR).

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group of diseases called ciliopathies.

Hospitalization for Dupuytren's disease: a French national descriptive analysis, 2002 to 2009.

Objectives: The goal of this study is to describe hospitalization for treatment of Dupuytren's disease in France between 2002 and 2009.

Methods: A repeated, annual, cross-sectional national survey of public and private French hospitals was performed between 2002 and 2009, with planned selection criteria for data extraction. Outcomes were age, sex, number of hospitalizations, length of stays, and types of surgical procedure.

Targeting channelrhodopsin-2 to ON-bipolar cells with vitreally administered AAV Restores ON and OFF visual responses in blind mice.

Most inherited retinal dystrophies display progressive photoreceptor cell degeneration leading to severe visual impairment. Optogenetic reactivation of retinal neurons mediated by adeno-associated virus (AAV) gene therapy has the potential to restore vision regardless of patient-specific mutations. The challenge for clinical translatability is to restore a vision as close to natural vision as possible, while using a surgically safe delivery route for the fragile degenerated retina.

Measurement of subfoveal choroidal thickness after cataract surgery in enhanced depth imaging optical coherence tomography.

Purpose: To compare subfoveal choroidal thickness (SFCT) before and after uneventful cataract surgery using enhanced depth imaging optical coherence tomography (EDI-OCT).

Methods: A prospective study was conducted on 115 eyes of 95 patients who had phacoemulsification. Measurements of SFCT were performed preoperatively, 1 day (D1), 7 days (D7), 1 month (M1), and 3 months (M3) after surgery using the EDI-OCT technique.

Enzymatic treatment of specimens before DNA extraction directly influences molecular detection of infectious agents.

Introduction: Biological samples, pharmaceuticals or food contain proteins, lipids, polymers, ammoniums and macromolecules that alter the detection of infectious agents by DNA amplification techniques (PCR). Moreover the targeted DNA has to be released from the complex cell walls and the compact nucleoprotein matrixes and cleared from potential inhibitors. The goal of the present work was to assess the efficiency of enzymatic pretreatments on infectious agents to make DNA available for further extraction and amplification.

From confluent human iPS cells to self-forming neural retina and retinal pigmented epithelium.

Progress in retinal-cell therapy derived from human pluripotent stem cells currently faces technical challenges that require the development of easy and standardized protocols. Here, we developed a simple retinal differentiation method, based on confluent human induced pluripotent stem cells (hiPSC), bypassing embryoid body formation and the use of exogenous molecules, coating, or Matrigel. In 2 wk, we generated both retinal pigmented epithelial cells and self-forming neural retina (NR)-like structures containing retinal progenitor cells (RPCs).

Comparison of ocular biomechanical response parameters in myopic and hyperopic eyes using dynamic bidirectional applanation analysis.

Purpose: To compare differences in the ocular biomechanical response in myopic and hyperopic eyes.

Setting: London Vision Clinic, London, United Kingdom, The Ohio State University, Columbus, OH, United States.

Design: Retrospective study.

The limits of medical interventions for the elimination of preventable blindness.

Background: Health authorities are working toward the global elimination of trachoma by the year 2020 with actions focused on the World Health Organization SAFE strategy (surgery of trichiasis, antibiotics, face washing and environmental changes) with emphasis on hygienist approaches for education.

Objectives: The present survey was performed to assess the sustainability of the SAFE strategy 3 years after trachoma was eliminated from 6 villages.

Methods: In February 2013 a rapid trachoma assessment was conducted in 6 villages of Kolofata's district, Extreme north Region, Cameroon, where trachoma was eliminated in 2010.

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Defective retinal synaptic transmission in patients affected with congenital stationary night blindness type 2 (CSNB2) can result from different dysfunction phenotypes in Cav1.4 L-type calcium channels. Here we investigated two prototypical Cav1.

Taurine: the comeback of a neutraceutical in the prevention of retinal degenerations.

Taurine is the most abundant amino acid in the retina. In the 1970s, it was thought to be involved in retinal diseases with photoreceptor degeneration, because cats on a taurine-free diet presented photoreceptor loss. However, with the exception of its introduction into baby milk and parenteral nutrition, taurine has not yet been incorporated into any commercial treatment with the aim of slowing photoreceptor degeneration.

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Purpose: Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait and shows a good genotype-phenotype correlation. Clinically, CSNB is classified as the Riggs type and the Schubert-Bornschein type.

Retinal prostheses: clinical results and future challenges.

Retinal prostheses aim at restoring visual perception in blind patients affected by retinal diseases leading to the loss of photoreceptors, such as age-related macular degeneration or retinitis pigmentosa. Recent clinical trials have demonstrated the feasibility of this approach for restoring useful vision. Despite a limited number of electrodes (60), and therefore of pixels, some patients were able to read words and to recognize high-contrast objects.

Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.

Mitochondrial disorders cannot be ignored anymore in most medical disciplines; indeed their minimum estimated prevalence is superior to 1 in 5000 births. Despite the progress made in the last 25 years on the identification of gene mutations causing mitochondrial pathologies, only slow progress was made towards their effective treatments. Ocular involvement is a frequent feature in mitochondrial diseases and corresponds to severe and irreversible visual handicap due to retinal neuron loss and optic atrophy.

Gene therapy for inherited retinal degenerations.

Gene therapy is quickly becoming a reality applicable in the clinic for inherited retinal diseases. Progress over the past decade has moved proof-of-concept gene therapies from bench to bedside. The remarkable success in safety and efficacy, in the phase I/II clinical trials for the form of the severe childhood-onset blindness, Leber's Congenital Amaurosis (LCA) type II (due to mutations in the RPE65 gene) generated significant interest and opened up possibilities for a new era of retinal gene therapies.

Complement factor H and related proteins in age-related macular degeneration.

Age-related macular degeneration (AMD) is the major cause of legal blindness in the industrialized world. Polymorphisms and recently discovered rare mutations of the Complement Factor H gene have been shown to be strongly associated with AMD. The deletion of CFH-related proteins 1 and 3, proteins that share homologous regions with CFH, is found in protective haplotypes.