Background: The aim of this study was to compare the therapeutic effect of intravitreal treatment with ranibizumab and dexamethasone using specific swept-source optical coherence tomography retinal biomarkers in patients with diabetic macular edema (DME). Methods: 156 treatment-naïve patients with DME were divided in two groups: 75 patients received 3 monthly intravitreal injections of ranibizumab 0.5 mg (Lucentis^®) (Group 1) and 81 patients received an intravitreal implant of dexamethasone 0.7 mg (Ozurdex^®) (Group 2). Patients were evaluated at baseline (V1), at three months post-treatment in Group 1, and at two months post-treatment in Group 2 (V2). Best-corrected visual acuity (BCVA) and swept source-OCT were recorded at each interval. Changes between V1 and V2 were analyzed using the Wilcoxon test and differences between the two groups of treatment were assessed using the Mann–Whitney test. Multiple regression analysis was performed to evaluate the possible OCT biomarker (CRT, ICR, CT, SND, HRS) as predictive factors for final visual acuity improvement. Results: In both groups, BCVA improved (p-value < 0.0001), and a significant reduction in central retinal thickness, intra-retinal cysts, red dots, hyper-reflective spots (HRS), and serous detachment of neuro-epithelium (SDN) was observed. A superiority of dexamethasone over ranibizumab in reducing the SDN height (p-value = 0.03) and HRS (p-value = 0.01) was documented. Conclusions: Ranibizumab and dexamethasone are effective in the treatment of DME, as demonstrated by functional improvement and morphological biomarker change. DME associated with SDN and HRS represents a specific inflammatory pattern for which dexamethasone appears to be more effective.

Fuchs endothelial corneal dystrophy (FECD) is characterized by the gradual deterioration of corneal endothelial cells (CECs) and is the most common cause of corneal transplantation worldwide. CECs apoptosis caused by oxidative stress plays a pivotal role in the pathogenesis of FECD. Antioxidant compounds have been of considerable significance as a candidate treatment in the management of corneal diseases. Based on these findings, the objective of this study was to evaluate the effects of an aloe extract with antioxidant properties, in an “in vitro” model of FECD. Human corneal epithelial (HCE) cells were preincubated with aloe extract 100 μg/mL, two hours before hydrogen peroxide (H₂O₂) stimulus. H₂O₂ challenge significantly reduced the cell viability, increased the generation of Reactive Oxygen Species (ROS) and malondialdehyde levels. Moreover, m-RNA expression and activity of Nrf-2, Catalase and Superoxide dismutase (SOD) were reduced together with an enhanced expression of IL-1β, tumor necrosis factor-α (TNF-α), IL-6, and cyclooxygenase 2 (COX-2). Furthermore, Bcl-2, Caspase-3 and Caspase-8 expression were down-regulated while Bax was up-regulated by H₂O₂ stimulus. Aloe extract blunted the oxidative stress-induced inflammatory cascade triggered by H₂O₂ and modulated apoptosis. Aloe extract defends HCE cells from H₂O₂-induced injury possibly due its antioxidant and anti-inflammatory activity, indicating that eye drops containing aloe extract may be used as an adjunctive treatment for FECD.

Fuchs endothelial corneal dystrophy (FECD) is a bilateral, hereditary syndrome characterized by progressive irreversible injury in the corneal endothelium; it is the most frequent cause for corneal transplantation worldwide. Oxidative stress induces the apoptosis of corneal endothelial cells (CECs), and has a crucial function in FECD pathogenesis. The stimulation of the adenosine A_2A receptor (A_2Ar) inhibits oxidative stress, reduces inflammation and modulates apoptosis. Polydeoxyribonucleotide (PDRN) is a registered drug that acts through adenosine A_2Ar. Thus, the goal of this study was to assess the effect of PDRN in an in vitro FECD model. Human Corneal Endothelial Cells (IHCE) were challenged with H₂O₂ (200 μM) alone or in combination with PDRN (100 μg/mL), PDRN plus ZM241385 (1 μM) as an A_2Ar antagonist, and CGS21680 (1 μM) as a well-known A_2Ar agonist. H₂O₂ reduced the cells’ viability and increased the expression of the pro-inflammatory markers NF-κB, IL-6, IL-1β, and TNF-α; by contrast, it decreased the expression of the anti-inflammatory IL-10. Moreover, the pro-apoptotic genes Bax, Caspase-3 and Caspase-8 were concurrently upregulated with a decrease of Bcl-2 expression. PDRN and CGS21680 reverted the negative effects of H₂O₂. Co-incubation with ZM241385 abolished the effects of PDRN, indicating that A_2Ar is involved in the mode of action of PDRN. These data suggest that PDRN defends IHCE cells against H₂O₂-induced damage, potentially as a result of its antioxidant, anti-inflammatory and antiapoptotic properties, suggesting that PDRN could be used as an FECD therapy.

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS.

We report a case of branch retinal artery occlusion (BRAO) that occurred after percutaneous coronary intervention (PCI). A 59-year-old man with no other previous diseases presented visual acuity deterioration in the left eye 24 hours after PCI. Fundus examination revealed ischemia at the temporal branch of the retinal artery associated with inner layer edema. Prompt treatment was performed with ocular digital massage and paracentesis of the anterior chamber. However, at discharge, the patient had a persistent visual loss with a central scotoma that persisted at 35-day follow-up without improvement of the visual acuity. The patient did not suffer from any other systemic complications. Retinal infarction should be considered a potential complication of PCI. Patients and health care providers should be aware of any visual signs. Permanent visual disability can be prevented by immediate diagnosis and prompt intervention.

Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability. Renal anomalies, endocrine and metabolic disturbances, and neurodevelopmental or psychiatric disorders are recurrent features, although penetrance and severity differ widely between patients. Methods: We reviewed the literature on the molecular basis, clinical presentation, diagnostic approaches, and management of 17q12 deletion syndrome, and we illustrate the variability of this condition through two contrasting paediatric cases. Results: The cases concern three siblings harbouring the same familial deletion, who nevertheless exhibited striking intrafamilial variability, ranging from renal and neurodevelopmental features to multisystemic involvement. These cases exemplify both extremes of the syndrome and highlight the challenges of clinical prognostication. Conclusions: The review and cases emphasise the importance of early genetic testing in paediatric renal anomalies, the necessity of multidisciplinary surveillance even in asymptomatic individuals, and the relevance of 17q12 deletion as a model of variable expressivity in genomic medicine.