Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.

Cocaine Abuse as an Immunological Trigger in a Case Diagnosed with Eales Disease.

Background: Eales disease is a clinical syndrome affecting the mid-peripheral retina with an idiopathic occlusive vasculitis and possible subsequent retinal neovascularization. The disease can develop into visually threatening complications. Case Presentation: We report the case of a 40-year-old Caucasian male with a history of cocaine abuse who presented with blurred vision in the left eye (LE). Fundus examination showed vitreous hemorrhages, peripheral sheathing of venous blood vessels, areas of retinal neovascularization in the LE, and peripheral occlusive phlebitis in the right eye. The full serologic panel was negative except for the heterozygous mutation of factor V Leiden. Clinical and biochemical parameters suggested a diagnosis of Eales disease. Therapy with dexamethasone, 1 mg per kg per day, tapered down slowly over 4 months, and peripheral laser photocoagulation allowed a regression of clinical signs and symptoms. Conclusion: This case shows an uncommon presentation of Eales disease associated with cocaine abuse. Both cocaine abuse and a thrombophilic pattern, as cofactors, might have sensitized the retinal microcirculation on the pathogenetic route to this retinal pathology. Furthermore, in view of this hypothesis, a thorough ocular and general medical history investigating drug abuse and coagulation disorders is recommended for ophthalmologists in such cases.

Correlation between Morphological Characteristics of Macular Edema and Visual Acuity in Young Patients with Idiopathic Intermediate Uveitis.

Background and Objectives: Macular edema (ME) is a common complication of intermediate uveitis (IU). It is often responsible for a decrease in visual acuity (VA). Three distinct patterns of macular edema have been described in intermediate uveitis, namely, cystoid macular edema (CME), diffuse macular edema (DME), and serous retinal detachment (SRD). The current study aims to describe the characteristics of macular edema in young patients with idiopathic intermediate uveitis and to correlate its features with VA using spectral domain optical coherence tomography (SD-OCT). Materials and Methods: A total of 27 eyes from 18 patients with idiopathic IU complicated by ME were included in this retrospective study. All patients underwent SD-OCT; data were gathered at the onset of ME. Best-corrected VA (BCVA) was correlated with the morphological features of ME. Results: BCVA was negatively correlated with Ellipsoid Zone (EZ) disruption (p = 0.00021), cystoid pattern (p = 0.00021), central subfield thickness (CST) (p < 0.001), and serous retinal detachment (0.037). Conclusions: In ME secondary to idiopathic IU, VA negatively correlates with Ellipsoid Zone disruption and increases in CST. Moreover, vision is influenced by the presence of cysts in the inner nuclear and outer nuclear layers and by the neuroepithelium detachment.

High myopic patients with and without foveoschisis: morphological and functional characteristics.

PURPOSE: Myopic foveoschisis (MF) is characterized by the splitting of the retinal layers in the fovea of patients with high myopia (HM). MF may progress into foveal detachment or macular hole formation with consequent loss of central vision. The aim of this study is to investigate morphological and functional changes of the macular region in myopic subjects with and without foveoschisis. DESIGN: Observational, cross-sectional, comparative study. METHODS: Forty-eight patients with HM and 24 healthy controls were evaluated by spectral domain-optical coherence tomography (SD-OCT), multifocal electroretinography (mfERG) and microperimetry (MP-1) tests to assess macular thickness, functionality and sensitivity values, respectively. The results of the diagnostic examinations were compared between three groups: HM patients with MF (N = 24), HM patients without MF (N = 24) and control group (CG) (N = 24). All statistical analyses were performed with STATA 14.0 (Collage Station, Texas, USA). One-way analysis of variance (ANOVA) followed by Tukey's post hoc test was used to analyze differences between groups unless specified; p values < 0.05 were considered as statistically significant. Gender distribution was compared by the Chi square test. RESULTS: The statistical analysis with one-way ANOVA followed by Tukey's post hoc test showed a significant increase in macular thickness in HM patients with MF when compared to both HM patients without MF and CG. Morphological changes were associated with functional impairment as demonstrated by the significant decrease in amplitude of the P1 wave and MP-1 sensitivity (p < 0.05), according to the anatomical landmarks. CONCLUSIONS: This study showed that the morphological changes observed in the central retina of HM patients with MF are associated with functional alterations. High-tech diagnostic tests such as SD-OCT, mfERG and MP-1 could be useful for management in complications of MF.

New disposable esthesiometer (KeraSenseⓇ) to improve diagnosis and management of neurotrophic keratitis.

PURPOSE: To validate the use, repeatability, and reproducibility of a new, cost-effective, disposable, sterile device (KeraSenseⓇ, Dompè farmaceutici SpA, Milan Italy) compared to Cochet-Bonnet (CB) esthesiometer. Secondly, to identify a simple, safe, rapid, and low-cost test to diagnose neurotrophic keratitis (NK). METHODS: 16 patients with diagnosis of NK stage I, 25 patients with diabetes mellitus (DM), and 26 healthy subjects were included in the study. Corneal sensitivity (CS) was assessed by CB and KeraSenseⓇ. Repeatability, accuracy, and reproducibility of the novel disposable aesthesiometer were assessed. Specificity, sensitivity, and cut-off value for NK diagnosis were calculated by ROC curve analysis. RESULTS: All NK patients showed a CS ≤ 40 mm, while none of the healthy patients showed a CS value < 50 mm. Significant agreement was found between CB measurements and the single use esthesiometer evaluations of CS (p < 0.001). Repeatability evaluations of the single use esthesiometer showed 100% agreement between different measurements (p < 0.001). Reproducibility evaluations showed 99.6% concordance between different operators (p < 0.001). A 55 mm value of the single use esthesiometer was adequate to exclude an NK diagnosis, while all NK patients showed a value ≤ 35 mm. CONCLUSIONS: Corneal hypo/anaesthesia is considered the hallmark of NK. The use of the novel single-use esthesiometer will allow for a diagnostic improvement in NK, sparing time and guaranteeing patients' safety. Diabetic patients despite normal corneal findings may show impairment of CS, suggesting a preclinical stage of NK, requiring a close follow-up.

Olfactory Dysfunction and Glaucoma.

BACKGROUND: Olfactory dysfunction is a well-known phenomenon in neurological diseases with anosmia and hyposmia serving as clinical or preclinical indicators of Alzheimer's disease, Parkinson's disease, and other neurodegenerative disorders. Since glaucoma is a neurodegenerative disease of the visual system, it may also entail alterations in olfactory function, warranting investigation into potential sensory interconnections. METHODS: A review of the current literature of the last 15 years (from 1 April 2008 to 1 April 2023) was conducted by two different authors searching for topics related to olfaction and glaucoma. RESULTS: three papers met the selection criteria. According to these findings, patients with POAG appear to have worse olfaction than healthy subjects. Furthermore, certain predisposing conditions to glaucoma, such as pseudoexfoliation syndrome and primary vascular dysregulation, could possibly induce olfactory changes that can be measured with the Sniffin Stick test. CONCLUSIONS: the scientific literature on this topic is very limited, and the pathogenesis of olfactory changes in glaucoma is not clear. However, if the results of these studies are confirmed by further research, olfactory testing may be a non-invasive tool to assist clinicians in the early diagnosis of glaucoma.

Unusual Presentation of Skin Tattoo-Associated Panuveitis.

AIM: We report a case of a young male who developed bilateral panuveitis after extensive tattooing. DESIGN: Case report. METHODS: A 22-year-old male with a history of inflamed tattoos presented with pain in both eyes and blurred vision in the left eye. Clinical examination showed ciliary congestion, flare, vitreous cells in both eyes, and posterior synechiae in the left eye. Optic nerve was swollen in both eyes. OCT scans demonstrated subretinal blood, associated with neurosensory macular detachment in the left eye. The skin tattoo biopsy showed a granulomatous inflammation without evidence of sarcoidosis. Long-term corticosteroid therapy allowed a regression of clinical signs and symptoms with full recovery. CONCLUSION: TAttoo Granulomas with Uveitis (TAGU) is a syndrome with numerous clinical presentations. In our case, optic nerve head oedema and subretinal hemorrhage at the posterior pole were the presentation signs. Ophthalmologists should always consider TAGU as a diagnosis in patients with a history of inflamed tattoos.

Bilateral Angle Recession and Chronic Post-Traumatic Glaucoma: A Review of the Literature and a Case Report.

Ocular trauma affects millions of people worldwide and is a leading cause of secondary glaucoma. Angle recession is the main cause of post-traumatic glaucoma after blunt eye trauma, and it is usually unilateral. The aim of this paper is to investigate the possible causes of angle recession with a bilateral presentation. Airbag activation during traffic accidents is a likely cause to be ruled out, along with repeated head or eye trauma, due to contact sports or a history of physical abuse. These aspects can aid in early detection, appropriate management, and improved outcomes for patients with ocular trauma. Finally, we report the case of a 75-year-old Caucasian man who developed a bilateral angle recession after an airbag impact, with advanced glaucoma in the right eye and ocular hypertension in the left eye. To our knowledge, this is the first case in the literature of chronic post-traumatic glaucoma probably caused by an airbag.

OCT biomarkers as predictors of visual improvement in diabetic macular edema eyes receiving dexamethasone implants.

BACKGROUND: Several optical coherence tomography (OCT) biomarkers have been proposed as predictors for functional and anatomical outcomes in Diabetic Macular Edema (DME). This study aims to examine the impact of these OCT features on the visual acuity improvement of patients with DME after long-acting Dexamethasone intravitreal implants (DEX-I) injection. Furthermore, the safety and impact of DEX-I on clinical parameters, including intraocular pressure (IOP) were assessed. METHODS: In this retrospective observational study, we reviewed the medical records of naïve and non-naïve eyes with DME who received at least one DEX-I. The primary endpoint was visual acuity improvement of ≥ 5 ETDRS letters at 1 month and 4 months after treatment. Secondary outcomes were the changes in OCT biomarkers and the impact of DEX-I on IOP at 1 and 4 months of follow-up. Linear panel regression analysis was used to test for differences in central subfield thickness (CST) over time and it was stratified according to biomarkers at baseline. Finally, a logistic regression analysis was used to identify factors predicting visual improvement at 1 and 4 months. RESULTS: We included 33 eyes of which 63.6% were at an advanced stage of DME. Overall, CST, cube average thickness (CAT), cube volume (CV), and intraretinal cystoid spaces > 200 µm (ICS) decreased following DEX-I injection (p < 0.001). Additionally, a thicker CST at baseline was observed in eyes with better visual improvement at one month (p = 0.048). After logistic regression analysis, CST was retained as the only predictor for visual improvement at one month (p = 0.044). Furthermore, panel regression analysis identified a relation between subfoveal neuroretinal detachment (SND) at baseline and CST increase at four months. Lastly, only 15.2% of the eyes necessitated topical medication for IOP reduction, with no differences observed when stratifying between naïve and non-naïve eyes. CONCLUSION: Our analyses suggest that a ticker baseline CST may serve as a positive predictor of early visual improvement and SND presence at baseline may be a negative prognostic factor for CST increase 4 months after DEX-I injection. Other well-known biomarkers, such as disorganization of the inner retinal layers (DRIL) and hyperreflective foci (HF), did not demonstrate prognostic value on visual outcomes, at least within the first four months following the injection.

Osteo-odonto-keratoprosthesis According to Strampelli Original Technique: A Retrospective Study With Up to 30 Years of Follow-up.

PURPOSE: To describe clinical, anatomical, and visual outcomes obtained from a long-term follow-up of 59 patients who underwent osteo-odonto-keratoprosthesis (OOKP) using the Strampelli original technique. DESIGN: Retrospective clinical cohort study. METHODS: The study included 82 eyes of 59 patients who underwent OOKP surgery between 1969 and 2011. Patients' clinical characteristics before surgery as well as complications and further surgeries until the end of follow-up were recorded. Best-corrected visual acuity (BCVA) was revised before surgery and at 1 month, 1 year, and every 5 years until the 30th year of follow-up. RESULTS: Mean follow-up post-OOKP was 27.4 ± 11.2 years (range, 2.4-52). The most frequent cause of blindness was chemical injuries (71%). OOKP integrity was maintained in 77 of 82 eyes (94%) until the end of follow-up. Excluding cataract, acquired glaucoma was the most frequent complication, with a prevalence at 10 years of 36%. Mean BCVA improved from 2.60 ± 0.32 at presentation to 0.40 ± 0.65 at 1 year and 1.21 ± 1.19 logMAR at 30 years. Overall, 51% of the included eyes attained a BCVA better than 0.05 logMAR, and stabilization of BCVA was observed for the first 10 years of follow-up post-OOKP. Better BCVA outcomes were observed in the Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) group, whereas glaucoma was found not to significantly affect visual acuity. CONCLUSIONS: The original OOKP still represents a valid surgical choice, which is durable over time, for restoring vision in end-stage corneal blindness patients who are not eligible for a corneal transplant.

Diabetic retinopathy, oxidative stress, and sirtuins: an in depth look in enzymatic patterns and new therapeutic horizons.

Diabetic retinopathy (DR) is one of the leading causes of blindness in the world. DR represents the most common microvascular complication of diabetes, and its incidence is constantly rising. The complex interactions between inflammation, oxidative stress, and the production of free oxygen radicals caused by prolonged exposure to hyperglycemia determine the development of DR. Sirtuins (SIRTs) are a recently discovered class of 7 histone deacetylases involved in cellular senescence, regulation of cell cycle, metabolic pathways, and DNA repair. SIRTs participate in the progress of several pathologies such as cancer, neurodegeneration, and metabolic diseases. In DR sirtuins 1,3,5, and 6 play an important role as they regulate the activation of the inflammatory response, insulin sensibility, and both glycolysis and gluconeogenesis. A wide spectrum of direct and indirect activators of SIRTs pathways (e.g., antagomiR, resveratrol, or glycyrrhizin) is currently being developed to treat the inflammatory cascade occurring in DR. We focus on the main metabolic and inflammatory pathways involving SIRTs and DR, as well as recent evidence on SIRTs activators that may be employed as novel therapeutic approaches to DR.

Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.

AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). METHODS: This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including spectral domain-optical coherence tomography (SD-OCT) and mfERG. The 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. RESULTS: Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy controls, while the reduction was not significant in the 2 central degrees between the groups. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes detected in the nasal quadrants. No differences in the implicit times were recorded in the 2 central degrees and in the 4 quadrants as compared between NF1 patients and controls. CONCLUSION: Impaired neuroretinal function in NF1 patients is expressed in a decreased amplitude of the P1-wave between 2 and 25 central retinal degrees on mfERG. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, can be involved. The possible use of mfERG as subclinical retinal damage indicator has a potential utility in clinical practice for the follow-up of NF1 patients.

Effects of Scleral Contact Lenses for Keratoconus Management on Visual Quality and Intraocular Pressure.

PURPOSE: To evaluate the visual acuity level achieved by scleral contact lens (CL) fitting in patients affected by keratoconus and to evaluate possible intraocular pressure (IOP) changes during the scleral CL wear using a transpalpebral tonometer. METHODS: In a prospective case series a comparison was made between visual acuity obtained with glasses, RGP and 16.8mm diameter scleral CL in 30 consecutive patients affected by keratoconus. IOP was tested during scleral CL wear by transpalpebral Diaton Tonometer (DT) and also by Goldmann Applanation Tonometer (GAT) before and after scleral CL wear. RESULTS: The mean logMAR visual acuity improved from 0.2±0.25SD with glasses and 0.1±0.02SD with RGP, to -0.002±0.041SD when using the scleral CL (p<0.05). The mean IOP value before scleral CL wear was 12.93mmHg±2.20SD when measured with GAT and 7.85mmHg±2.27SD when measured with DT. During scleral CL wear, IOP was assessed through DT, with a mean value of 8.86mmHg±2.36SD; values were stable after 8 hours of scleral CL use. Immediately after scleral CL removal, the mean IOP measured with GAT was 12.85mmHg ±2.40SD and the mean IOP measured with DT was 7.66mmHg±1.88SD. Therefore, during scleral CL wear, it was evidenced a small but statistically significant increase of the mean IOP value (1.01mmHg; p<0.01), with a reversion to values prior to application when scleral CL was removed. CONCLUSION: Scleral CLs remarkably improved visual acuity in keratoconus patients when compared to glasses or RGP contact lenses. Even if it was evidenced a small increase of the mean IOP value during their wear, it may not be significant in otherwise healthy eyes. Statistical analysis demonstrated good agreement between GAT and DT but their numerical values presented a constant gap, that should be taken into account when there is a need to relate the DT values to the reference ones.

Visual Performances of a New Extended Depth-of-Focus Intraocular Lens with a Refractive Design: A Prospective Study After Bilateral Implantation.

PURPOSE: The aim of the present study was to evaluate the visual outcome of a new extended depth-of-focus (EDOF) intraocular lens (IOL) after bilateral implantation. A qualitative and quantitative analysis was performed and data were compared with those given by other studies regarding multifocal IOLs, which have the same purpose of giving spectacle independence to the patients. METHODS: The study enrolled 40 eyes of 20 patients who underwent cataract surgery with bilateral implantation of an EDOF IOL (Evolve Soleko, Rome, Italy). The mean age was 74.5±9 years (range 59-83ys). Refractive outcomes and contrast sensitivity were evaluated preoperatively and at 6-month follow-up. We also examined reading speed, glare, halos, difficulties in the night driving, the requirement for spectacles, and overall satisfaction with vision. Two questionnaires were administered for this purpose. RESULTS: At 6 months, the percentage of eyes within ±0.50 diopters (D) from emmetropia was 82.5%. Of all patients, 90% were satisfied with their vision. The percentage of spectacle-free for near and distance vision patients was 70% and 95%, respectively. A postoperative binocular uncorrected 60cm intermediate visual acuity (UI60VA) of 0.2 logMAR or better was achieved in 92% of patients. Contrast sensitivity significantly improved postoperatively (p<0.001) and mean reading speed was good. CONCLUSION: This new EDOF IOL seems to provide an effective alternative to patients who desire a spectacle-free lifestyle postoperatively. These lenses can supply a satisfactory distance, intermediate and near vision, and retain good contrast sensitivity, with most patients reporting excellent satisfaction.

Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients.

INTRODUCTION: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published. PURPOSE: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies. METHODS: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation. RESULTS: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations. CONCLUSION: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.

The Complex Relationship between Diabetic Retinopathy and High-Mobility Group Box: A Review of Molecular Pathways and Therapeutic Strategies.

High-mobility group box 1 (HMGB1) is a protein that is part of a larger family of non-histone nuclear proteins. HMGB1 is a ubiquitary protein with different isoforms, linked to numerous physiological and pathological pathways. HMGB1 is involved in cytokine and chemokine release, leukocyte activation and migration, tumorigenesis, neoangiogenesis, and the activation of several inflammatory pathways. HMGB1 is, in fact, responsible for the trigger, among others, of nuclear factor-κB (NF-κB), tumor necrosis factor-α (TNF-α), toll-like receptor-4 (TLR-4), and vascular endothelial growth factor (VEGF) pathways. Diabetic retinopathy (DR) is a common complication of diabetes mellitus (DM) that is rapidly growing in number. DR is an inflammatory disease caused by hyperglycemia, which determines the accumulation of oxidative stress and cell damage, which ultimately leads to hypoxia and neovascularization. Recent evidence has shown that hyperglycemia is responsible for the hyperexpression of HMGB1. This protein activates numerous pathways that cause the development of DR, and HMGB1 levels are constantly increased in diabetic retinas in both proliferative and non-proliferative stages of the disease. Several molecules, such as glycyrrhizin (GA), have proven effective in reducing diabetic damage to the retina through the inhibition of HMGB1. The main focus of this review is the growing amount of evidence linking HMGB1 and DR as well as the new therapeutic strategies involving this protein.

Vitamin K Concentration and Cognitive Status in Elderly Patients on Anticoagulant Therapy: A Pilot Study.

OBJECTIVES: Recent studies have suggested that vitamin K may exert significant effects on the central nervous system. The present study investigates the relationship between vitamin K plasmatic levels and cognitive functions in elderly patients on oral anticoagulant therapy (OAT). DESIGN: At the Thrombosis Centre of Haematology, "Sapienza" University of Rome, 85 patients on OAT, aged between 75 and 92, were randomly enrolled in the study. Patients were on OAT with vitamin K antagonists (VKAs). Vitamin K1 concentrations were determined using standardized High-Performance Liquid Chromatography (HPLC). Cognitive functions were assessed using the Milan Overall Dementia Assessment (MODA). RESULTS: MODA scores are positively correlated to vitamin K1 concentration. Patients with vitamin K1 below 0.100 µg/L and between 0.100 and 0.400 µg/L and between 0.100 and 0.400 µg/L and between 0.100 and 0.400 p < 0.001). Even long-term OAT (>10 years) does not affect MODA scores. Education seems to exert a greater role on the cognitive status in comparison with aging. CONCLUSIONS: The study shows a positive association between vitamin K1 concentration and cognitive status in elderly patients (≥75 years) on OAT. The relationship between vitamin K1 concentration and MODA scores is described by a linear model. Cognitive status is not influenced by the duration of OAT but by the years of education.

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. PURPOSE: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. METHODS: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). RESULTS: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). CONCLUSION: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1.

Eye drop emulsion containing 0.1% cyclosporin (1 mg/mL) for the treatment of severe vernal keratoconjunctivitis: an evidence-based review and place in therapy.

Vernal keratoconjunctivitis (VKC) is a rare, recurrent and multifactorial ocular disease, which typically flares up during spring and affects especially male children and adolescents. This condition does not usually respond to common treatments with antihistamines or mast cells stabilizers, whereas corticosteroids have effective results. Corticosteroids need to be carefully administered, to avoid adverse effects, mainly the secondary development of glaucoma, cataracts, or infections. Immunosuppressive agents, such as cyclosporin (CyA) or tacrolimus are, therefore, frequently employed in VKC patients. Only the 0.1% CyA (1 mg/mL) concentration has an approved and specific clinical indication for the treatment of VKC and this drug was given the denomination of orphan drug by the European Commission (EU/3/06/360) in 2006. So far, few studies have been conducted to evaluate the efficacy and the side effects of topical 0.1% CyA. Different topical CyA concentrations, ranging from 0.05% to 2%, and various types of formulation are available at the moment. In the future, 0.1% CyA will presumably take an important part in the management of VKC. The present review focuses on eye drops containing 0.1% CyA; however, more studies will be needed to define its long-term efficacy in the natural course of this severe ocular disease.

The Relationships Between Vitamin K and Cognition: A Review of Current Evidence.

Vitamin K is a fat-soluble nutrient discovered in 1935 and its role in blood coagulation has been thoroughly explored. In recent years, studies conducted in vitro and on animals highlighted vitamin K involvement in brain cells development and survival. In particular, vitamin K seems to have an antiapoptotic and anti-inflammatory effect mediated by the activation of Growth Arrest Specific Gene 6 and Protein S. Moreover, this vitamin is involved in sphingolipids metabolism, a class of lipids that participate in the proliferation, differentiation, and survival of brain cells. An altered expression in sphingolipids profile has been related to neuroinflammation and neurodegeneration. This review stems from a growing interest in the role of vitamin K in brain functions, especially in cognition, also in view of an expected increase of prevalence of Alzheimer's disease and other forms of dementia. It collects recent researches that show interesting, even though not definitive, evidence of a direct correlation between vitamin K levels and cognitive performance. Moreover, vitamin K antagonists, used worldwide as oral anticoagulants, according to recent studies may have a negative influence on cognitive domains such as visual memory, verbal fluency and brain volume. The aim of this review is to analyze the evidence of clinical studies carried out up to date on the relationship between vitamin K intake and cognitive performances. The involvement of vitamin K antagonists (VKAs) in declining cognitive performances is also addressed separately.