Risk Factors for Retinal Detachment in Marfan Syndrome After Pediatric Lens Removal.

Purpose: To determine retinal detachment (RD) risk factors after lens removal surgery in children with Marfan syndrome (MS).

Design: Retrospective, case control study.

Methods: This was an institutional case series including children (age <18 years) with MS who underwent lens removal surgery.

Intraocular foreign bodies in children: A retrospective case series.

Introduction: Open globe injuries are a major cause of visual impairment in children, related to the severity of the trauma or secondary to induced amblyopia. Intraocular foreign bodies (IOFB) have been reported in approximately one third of cases of open globe injuries. As clinical presentation and management may differ between adults and children, data is lacking about IOFBs in children under 18years of age.

Incidence and Outcomes of Eye Trauma Associated With Recreative Use of Nonpowder Toy Guns: A 12-Year Retrospective Study.

Purpose: Nonpowder toy guns (NPTGs) are responsible for many ocular traumas. This study aims to detail the outcomes of these injuries depending on the causative NPTG.

Design: Retrospective, observational case series.

Outcomes of Modified Limbal Lensectomy-Vitrectomy in Stages 4B and 5 Retinopathy of Prematurity with Extended Retrolental Fibroplasia.

Purpose: To report on the anatomical and functional outcomes of a modified limbal lensectomy-vitrectomy (LV) approach for stages 4B and 5 retinopathy of prematurity (ROP) as defined in the International Classification of Retinopathy of Prematurity, 3rd Edition (ICROP 3).

Design: Retrospective, monocentric, consecutive case series.

Patients: Infants with ROP that underwent limbal LV for diffuse retrolental fibroplasia.

Lens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature.

Purpose: To describe a new surgical technique and outcomes of lens-sparing vitrectomy and retrolental stalk dissection in posterior persistent fetal vasculature (PFV).

Design: Retrospective interventional case series.

Methods: RESULTS: Among the 21 included eyes, 8 (38%) had no macular involvement and 4 (19%) presented with microphthalmia.

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.

Persistent fetal vasculature (PFV) is a rare malformative ocular disorder resulting from the failure of the hyaloid vasculature to regress. The severity of the visual impairment is depending on the underlying eye defects, ranging from discreet hyaloid remnants to severe ocular anomalies. Although PFV is generally unilateral, sporadic and idiopathic, a genetic cause has been described in some individuals, especially those presenting with a bilateral and/or syndromic form of PFV.

SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS: Clinical Presentation and Outcomes.

Purpose: To describe clinical characteristics and outcomes of children with early-onset X-linked retinoschisis.

Methods: In this retrospective consecutive case series, we included children diagnosed with symptomatic X-linked retinoschisis younger than 2 years. Presenting signs, clinical characteristics, treatments, and outcomes were recorded.

Coats disease in female population: A comparison of clinical presentation and outcomes.

Purpose: To compare clinical characteristics at presentation and outcomes of Coats disease between females and males.

Methods: In this retrospective, consecutive case series we included all children diagnosed with Coats disease in a single tertiary referral center. Initial clinical presentation, treatment and outcomes were collected.

Surgical removal of submacular choroidal neovessels in children: Outcome and literature review.

Purpose: To report on the outcome of surgical submacular choroidal neovascular membrane (CNV) removal in children and to perform a comprehensive review of literature concerning this intervention in children.

Methods: In this retrospective, noncomparative, interventional case series, we included 8 eyes of 7 consecutive children with subfoveal choroidal neovascularization treated by pars plana vitrectomy (PPV) and CNV removal. Main outcome measures were visual acuity and complications.

Evaluation and modification of French screening guidelines for retinopathy of prematurity.

Purpose: To evaluate the current French screening guidelines for retinopathy of prematurity (ROP) and to suggest modifications to it.

Methods: In this multicentric retrospective, noncomparative, interventional case series we included infants with a gestational age (GA) ≤32 weeks who were screened for ROP by fundus examination between 2011 and 2018. Main Outcome Measures were the presence of ROP and the need for treatment.

Treatment outside the Recommended Guidelines for Retinopathy of Prematurity (ROP): Prevalence, Characteristics, and Issues.

This study aims to assess the prevalence and characteristics of preterm infants with retinopathy of prematurity (ROP) treated outside the recommended guidelines. In this retrospective monocentric cohort, we included all premature children treated in our department for ROP by laser photoablation or anti-VEGF intravitreal injection. The main outcome was treatment of both eyes for ROP less severe than pre-threshold type 1, treated outside ETROP guidelines.

An update on continuous-wave cyclophotocoagulation (CW-CPC) and micropulse transscleral laser treatment (MP-TLT) for adult and paediatric refractory glaucoma.

Purpose: Continuous-wave cyclophotocoagulation (CW-CPC) is often preferred to medical and surgical treatments for managing refractory glaucoma. This review summarizes diode CW-CPC indications, history, histopathology, methods, efficacy and safety. It also provides an overview of the latest data available on micropulse transscleral laser treatment (MP-TLT) that uses repetitive micropulses of diode laser energy in an off-and-on cyclical fashion.

Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy.

Purpose: To evaluate the outcome for vitreoretinal surgery in children with familial exudative vitreoretinopathy (FEVR) and to evaluate the risk factors associated with failure.

Methods: This is a retrospective interventional case series of 43 consecutive eyes (34 patients) with vitreoretinal surgery for FEVR. Ocular status prior to intervention and at last follow-up and all surgical steps were recorded.

Heterochromatin-Driven Nuclear Softening Protects the Genome against Mechanical Stress-Induced Damage.

Tissue homeostasis requires maintenance of functional integrity under stress. A central source of stress is mechanical force that acts on cells, their nuclei, and chromatin, but how the genome is protected against mechanical stress is unclear. We show that mechanical stretch deforms the nucleus, which cells initially counteract via a calcium-dependent nuclear softening driven by loss of H3K9me3-marked heterochromatin.

Unbiased Forward Genetic Screening with Chemical Mutagenesis to Uncover Drug-Target Interactions.

The steadily increasing throughput in next-generation sequencing technologies is revolutionizing a number of fields in biology. One application requiring massive parallel sequencing is forward genetic screening based on chemical mutagenesis. Such screens interrogate the entire genome in an entirely unbiased fashion and can be applied to a number of research questions.

Regulation of life span by the gut microbiota in the short-lived African turquoise killifish.

Gut bacteria occupy the interface between the organism and the external environment, contributing to homeostasis and disease. Yet, the causal role of the gut microbiota during host aging is largely unexplored. Here, using the African turquoise killifish (), a naturally short-lived vertebrate, we show that the gut microbiota plays a key role in modulating vertebrate life span.

A microRNA-129-5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses.

Synaptic downscaling is a homeostatic mechanism that allows neurons to reduce firing rates during chronically elevated network activity. Although synaptic downscaling is important in neural circuit development and epilepsy, the underlying mechanisms are poorly described. We performed small RNA profiling in picrotoxin (PTX)-treated hippocampal neurons, a model of synaptic downscaling.

FUCHS-towards full circular RNA characterization using RNAseq.

Circular RNAs (circRNAs) belong to a recently re-discovered species of RNA that emerge during RNA maturation through a process called back-splicing. A downstream 5' splice site is linked to an upstream 3' splice site to form a circular transcript instead of a canonical linear transcript. Recent advances in next-generation sequencing (NGS) have brought circRNAs back into the focus of many scientists.

Specific identification and quantification of circular RNAs from sequencing data.

Motivation: Circular RNAs (circRNAs) are a poorly characterized class of molecules that have been identified decades ago. Emerging high-throughput sequencing methods as well as first reports on confirmed functions have sparked new interest in this RNA species. However, the computational detection and quantification tools are still limited.

A coding-independent function of an alternative Ube3a transcript during neuronal development.

The E3 ubiquitin ligase Ube3a is an important regulator of activity-dependent synapse development and plasticity. Ube3a mutations cause Angelman syndrome and have been associated with autism spectrum disorders (ASD). However, the biological significance of alternative Ube3a transcripts generated in mammalian neurons remains unknown.