Broadening the ocular phenotypic spectrum of ultra-rare variants: report of two cases.

Introduction: gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language delay, and dysmorphic facial features. The reported ocular involvement includes strabismus, amblyopia, and refraction errors.

Central retinal artery occlusion in a young child affected by COVID-19: a first case report.

Background: Central retinal artery occlusion (CRAO) is an ophthalmic emergency, and its etiology is generally ascribed to vessel occlusion by a thrombus or embolus, eventually due to a hypercoagulable state. CRAO occurrence is described even in the pediatric population, but its incidence is very rare. SARS-CoV-2 infection has a multitude of presentations, and almost any organ may be involved including the ocular district.

Optic nerve involvement in -related disease: observations from a multicentric case series.

Background: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few reports have focused on the optic nerve in this disease.

Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients.

Objective: To study the relationships of functional and morphologic retinal parameters in a series of pediatric patients with varying degrees of foveal hypoplasia (FH).

Design: Monocentric observational retrospective study.

Participants: Among 21 pediatric patients, 16 met inclusion criteria, having FH confirmed with spectral-domain optical coherence tomography (SD-OCT) scan METHODS: Data were analyzed retrospectively.

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Background: X-linked juvenile retinoschisis (×LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ranging from severe early-onset defects to subtle abnormalities diagnosed in elderly patients. XLRS is caused by a loss of function of the protein Retinoschisin (RS1), which is essential to preserve retinal integrity and function of photoreceptor-bipolar synapse. The literature data so far mostly agree on the absence of a clear genotype-phenotype correlation in XLRS.

Social media, education, and the rise of populist Euroscepticism.

This paper studies how the diffusion of skeptical or negative attitudes towards the European Union (EU) and the process of European integration relates to the new technologies of political communication, education, and their interaction. Using both European-wide and national surveys, we find a strong relationship between exposure to online political activity and Euroscepticism only among individuals with lower formal education. When distinguishing between different forms of online political activity it also finds that it is not the use of the internet per se that matters, but the specific use of social networks, like Twitter or Facebook, for obtaining information about politics.

Language and the cultural markers of COVID-19.

Despite its universal nature, the impact of COVID-19 has not been geographically homogeneous. While certain countries and regions have been severely affected, registering record infection rates and excess deaths, others experienced only milder outbreaks. We investigate to what extent human factors, in particular cultural origins reflected in different attitudes and behavioural norms, can explain different degrees of exposure to the virus.

Coronagraben in Switzerland: culture and social distancing in times of COVID-19.

Social distancing measures help contain the spread of COVID-19, but actual compliance has varied substantially across space and time. We ask whether cultural differences underlie this heterogeneity using mobility data across Switzerland between February and December 2020. We find that German-speaking cantons decreased their mobility for non-essential activities significantly less than French-speaking cantons.

Novel mutations in and are associated with posterior microphthalmos.

: Biallelic pathogenic variants in and genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical and molecular findings in a series of five patients affected by PM from four unrelated families.: All patients underwent a complete ophthalmological and genetic evaluation.

Refractive Outcome in Preterm Newborns With ROP After Propranolol Treatment. A Retrospective Observational Cohort Study.

Recent explorative studies suggest that propranolol reduces retinopathy of prematurity (ROP) progression, but the short-term effects of propranolol treatment at 1 year of corrected age have not been extensively evaluated. A multi-center retrospective observational cohort study was conducted to assess the physical development and the refractive outcome of infants with prior ROP treated with propranolol. Forty-nine infants treated with propranolol were compared with an equal number of patients who did not receive any propranolol therapy and represent the control group, with comparable anthropometrical characteristics and stages of ROP.

Propranolol 0.2% Eye Micro-Drops for Retinopathy of Prematurity: A Prospective Phase IIB Study.

Oral propranolol reduces retinopathy of prematurity (ROP) progression, although not safely. Propranolol 0.1% eye micro-drops administered to newborns with stage 2 ROP are well-tolerated, but not sufficiently effective.

Propranolol eye drops in patients with corneal neovascularization.

Rationale: Studies performed in animal models of corneal neovascularization suggested the possible efficacy of a treatment with propranolol. Corneal neovascularization is one of the most feared complications of Stevens-Johnson syndrome that frequently involves ocular surface. We report the first 2 patients with severe ocular neo-vascularization treated with different degrees of success, with propranolol eye drops.

Study protocol: safety and efficacy of propranolol 0.2% eye drops in newborns with a precocious stage of retinopathy of prematurity (DROP-ROP-0.2%): a multicenter, open-label, single arm, phase II trial.

Background: Retinopathy of prematurity (ROP) still represents one of the leading causes of visual impairment in childhood. Systemic propranolol has proven to be effective in reducing ROP progression in preterm newborns, although safety was not sufficiently guaranteed. On the contrary, topical treatment with propranolol eye micro-drops at a concentration of 0.

Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial.

Background: Oral propranolol reduces retinopathy of prematurity (ROP) progression, although not safely. This study evaluated safety and efficacy of propranolol eye micro-drops in preterm newborns with ROP.

Methods: A multicenter open-label trial, planned according to the Simon optimal two-stage design, was performed to analyze safety and efficacy of propranolol micro-drops in newborns with stage 2 ROP.

Understanding the Role of Self-Judgment in the Association between Body Dissatisfaction and Quality of Life on Normal-Weight and Overweight Portuguese Women.

Literature has demonstrated the negative impact of body image dissatisfaction on women's quality of life. Nonetheless, it has been suggested that the relationship between body dissatisfaction and women's well-being is not linear, and that the processes that mediate this association remain unclear. This study aims to clarify the mediator role of self-judgment in the association between negative body image and psychological quality of life, in two groups: normal-weight and overweight women.

Oral propranolol for retinopathy of prematurity: risks, safety concerns, and perspectives.

Objective: To evaluate safety and efficacy of oral propranolol administration in preterm newborns affected by an early phase of retinopathy of prematurity (ROP).

Study Design: Fifty-two preterm newborns with Stage 2 ROP were randomized to receive oral propranolol (0.25 or 0.

Intravitreal bevacizumab for retinopathy of prematurity as first line or rescue therapy with focal laser treatment. A case series.

Objectives: Laser therapy is effective in the treatment of severe forms of retinopathy of prematurity (ROP), and aggressive posterior ROP (APROP), but always damages the retina. We report our preliminary findings in seven premature infants with complicated ROP or APROP who were treated with intravitreal bevacizumab (IVB) as first line monotherapy or rescue therapy combined with laser treatment.

Methods: We studied retrospectively seven preterm infants, who were affected by APROP (n = 4) or pre-threshold ROP (n = 3).

Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491.

Background: Despite new therapeutic approaches have improved the prognosis of newborns with retinopathy of prematurity (ROP), an unfavourable structural and functional outcome still remains high. There is high pressure to develop new drugs to prevent and treat ROP. There is increasing enthusiasm for anti-VEGF drugs, but angiogenic inhibitors selective for abnormal blood vessels would be considered as an optimal treatment.

Irresponsiveness of two retinoblastoma cases to conservative therapy correlates with up- regulation of hERG1 channels and of the VEGF-A pathway.

Background: Treatment strategies for Retinoblastoma (RB), the most common primary intraocular tumor in children, have evolved over the past few decades and chemoreduction is currently the most popular treatment strategy. Despite success, systemic chemotherapeutic treatment has relevant toxicity, especially in the pediatric population. Antiangiogenic therapy has thus been proposed as a valuable alternative for pediatric malignancies, in particolar RB.

Role of the adrenergic system in a mouse model of oxygen-induced retinopathy: antiangiogenic effects of beta-adrenoreceptor blockade.

Purpose: Oxygen-induced retinopathy (OIR) is a model for human retinopathy of prematurity (ROP). In OIR mice, this study determined whether blockade of β-adrenergic receptors (β-ARs) with propranolol influences retinal levels of proangiogenic factors, retinal vascularization, and blood-retinal barrier (BRB) breakdown.

Methods: Propranolol was administered subcutaneously and picropodophyllin (PPP) intraperitoneally.

Venous retinal flow reperfusion mechanisms following radial optic neurotomy with adjunctive intraocular triamcinolone in central retinal vein occlusion.

Background: To evaluate retinal reperfusion, anastomosis, and compensation following radial optic neurotomy for ischemic nonperfused central retinal vein occlusion.

Methods: Prospective, non-comparative, interventional case series of 13 patients with ischemic, nonperfused central retinal vein occlusion who underwent decompression surgery with a radial optic neurotomy and adjunctive intraocular triamcinolone. Patients were followed for 1 year after surgery, and were analyzed in the preoperative and postoperative stages determining: visual acuity by ETDRS chart (LogMar) and retinal thickness with optical coherence tomography.