Anderson-Fabry Disease: Focus on Ophthalmological Implications.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.

Corneal Alterations in Patients with Osteogenesis Imperfecta: An in vivo Corneal Confocal Microscopy Study.

Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disorder of the connective tissue. Despite recent attention to corneal abnormalities in OI, understanding remains limited. This study aimed to comprehensively evaluate corneal changes in a large sample of OI patients compared to controls using in vivo confocal microscopy (IVCM).

Targeting protein aggregation using a cocoa-bean shell extract to reduce α-synuclein toxicity in models of Parkinson's disease.

Neurodegenerative diseases are among the major challenges in modern medicine, due to the progressive aging of the world population. Among these, Parkinson's disease (PD) affects 10 million people worldwide and is associated with the aggregation of the presynaptic protein α-synuclein (α-syn). Here we use two different PD models, yeast cells and neuroblastoma cells overexpressing α-syn, to investigate the protective effect of an extract from the cocoa shell, which is a by-product of the roasting process of cocoa beans.

Macular Alterations in a Cohort of Caucasian Patients Affected by Retinitis Pigmentosa.

Objectives: Our objective was to investigate the prevalence of macular complications detected by spectral-domain optical coherence tomography (SD-OCT) in a large Caucasian cohort of RP patients, highlight the major alterations in chorioretinal structure, and compare the macular structural changes in eyes affected by retinal dystrophies with those in healthy controls.

Methods: This was an observational, retrospective, and cross-sectional study. Three hundred and seven patients with RP were consecutively enrolled and underwent clinical assessment.

Ocular Biomarkers in Alzheimer's Disease: Insights into Early Detection Through Eye-Based Diagnostics - A Literature Review.

Alzheimer's Disease (AD) is a significant challenge in neurodegenerative disorders, characterized by a gradual decline in cognitive functions. Diagnosis typically occurs at advanced stages when therapeutic options are less effective, underscoring the importance of early detection. Traditional diagnostic methods are often invasive and costly, spurring interest in more accessible and economical alternatives.

Perspective role of Substance P in Amyotrophic Lateral Sclerosis: From neuronal vulnerability to neuroprotection.

The neuropeptide Substance P (SP) and its preferred Neurokinin1 Receptor (NK1R) are known to participate in the physiopathology of neurodegenerative diseases and mainly exert a neuroprotective role. In the present work, we have described the involvement of SP and NK1R in Amyotrophic Lateral Sclerosis (ALS). This was demonstrated by the detection of altered levels of SP in the brain, spinal cord and cerebrospinal fluid (CSF) of patients and preclinical models of ALS, and by its ability to inhibit excitotoxicity-induced neurodegeneration in ALS animal models.

Reliability and reproducibility of an Italian questionnaire on "Knowledge of high social impact Eye Diseases" (KED-IT).

Background: Health literacy plays an important role in public health. Although this has been demonstrated in the field of ophthalmology, there are very few specific instruments available to assess eye health literacy. This work aims to develop an Italian questionnaire on knowledge of eye diseases (Knowledge on Eye Disease, Italian version; KED-IT) and to evaluate its reliability and reproducibility.

Challenging corneal diseases and microRNA expression: Focus on rare diseases and new therapeutic frontiers.

MicroRNAs (miRNAs) function as posttranscriptional regulators of gene expression by targeting specific messenger RNA (mRNA). This interaction modulates mRNA stability or translational efficiency, ultimately impacting the level of protein production. Emerging evidence suggests that miRNAs act as critical regulators in corneal diseases.

Retrolental cohesive ophthalmic viscoelastic injection for severe subluxated cataracts: a prospective study.

Background: To assess anatomical and functional outcomes of retrolental cohesive ophthalmic viscoelastic injection ("Viscolift technique") in patients with severely subluxated cataracts.

Methods: In the present prospective study, we included patients older than 18 years with severely subluxated cataracts and phacodonesis. Full medical history was obtained at the baseline ophthalmological assessment.

Tomographic and topographic predictive factors of big bubble formation during deep anterior lamellar keratoplasty in keratoconus.

Purpose: To identify preoperative predictors of big bubble (BB) formation during deep anterior lamellar keratoplasty (DALK) in patients with keratoconus (KC).

Methods: DESIGN: Retrospective cohort study in an Italian tertiary centre.

Study Population: Consecutive patients with KC undergoing DALK from January 2021 to July 2023.

Influence of Opacity Depth on Big Bubble Formation During Deep Anterior Lamellar Keratoplasty in Corneal Stromal Scars.

Purpose: To identify the key preoperative predictors of big bubble (BB) formation during deep anterior lamellar keratoplasty in patients with corneal stromal scars (CSS).

Methods: This retrospective cohort study included consecutive patients with CSS after infective keratitis who underwent BB-deep anterior lamellar keratoplasty between January 2021 and July 2023 at a tertiary referral center. Topographic and tomographic data were collected to compare the rates and types of BB formations.

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.

Exploiting Natural Niches with Neuroprotective Properties: A Comprehensive Review.

Natural products from mushrooms, plants, microalgae, and cyanobacteria have been intensively explored and studied for their preventive or therapeutic potential. Among age-related pathologies, neurodegenerative diseases (such as Alzheimer's and Parkinson's diseases) represent a worldwide health and social problem. Since several pathological mechanisms are associated with neurodegeneration, promising strategies against neurodegenerative diseases are aimed to target multiple processes.

'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.

Purpose: Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called 'BLUES' (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI.

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.

Application of Surface Stress-Driven Model for Higher Vibration Modes of Functionally Graded Nanobeams.

This paper employs a surface stress-driven nonlocal theory to investigate the synergistic impact of long-range interaction and surface energy on higher vibration modes of Bernoulli-Euler nanobeams made of functionally graded material. It takes into account surface effects such as the surface modulus of elasticity, residual surface stresses, surface density, and rotary inertia. The governing equation is derived through the application of Hamilton's principle.

Exploring Influence of Production Area and Harvest Time on Specialized Metabolite Content of Leaves and Evaluation of Antioxidant and Anti-Aging Properties.

Calabrian is one of the most appreciated licorice varieties worldwide, and its leaves are emerging as a valuable source of bioactive compounds. Nevertheless, this biomass is usually discarded, and its valorization could contribute to boost the economic value of the licorice production chain. In this study, the effects of production area and harvest time on the specialized metabolite content of leaves (GGL) and also the antioxidant and anti-aging properties are evaluated to explore the potential of this untapped resource and to select the most optimal harvesting practices.

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).

Comparison between Cultivated Oral Mucosa and Ocular Surface Epithelia for COMET Patients Follow-Up.

Total bilateral Limbal Stem Cell Deficiency is a pathologic condition of the ocular surface due to the loss of corneal stem cells. Cultivated oral mucosa epithelial transplantation (COMET) is the only autologous successful treatment for this pathology in clinical application, although abnormal peripheric corneal vascularization often occurs. Properly characterizing the regenerated ocular surface is needed for a reliable follow-up.