Francesca Simonelli

Università degli Studi della Campania "Luigi Vanvitelli

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (W...

Background: To evaluate how Ectopic Inner Foveal Layers (EIFL) affect macular morphology and function after idiopathic Epiretinal Membrane (ERM) and internal limiting membrane (ILM) peeling by the means of Best-Corrected Visual Acuity (BCVA), Optical Coherence Tomography (OCT), Microperimetry (MP-1) and Multifocal Electroretinogram (mfERG). Methods...

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n = 2790) followed at a single referral center. We provided, mainly by next generation sequencing, potentially conclusive molecular...

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonl...

Purpose To report a case of peripapillary pachychoroid syndrome (PPS) successfully treated with navigated subthreshold micropulse laser (SML). Observations A 65-year-old male was referred to our retina service complaining a worsening vision in the left eye over the past 6 months. A complete ophthalmological evaluation including best corrected visu...

To report quantitative retinal changes assessed by spectral-domain optical coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) at a single center in Italy. Retrospective review of six consecutive pediatric patients with biallelic RPE65 -related dystrophy treated bilaterally with VN. SD-OCT scans were analyzed to extrac...

Background: To investigate the efficacy interval of the topical therapies available for primary open-angle glaucoma (POAG) and the ocular and systemic features potentially associated. Methods: This retrospective study included 190 patients with POAG undergoing first topical therapy, throughout a follow-up of 15 years. The patients started one to...

UNSTRUCTURED Telemedicine is conceived as physicians who manage and treat patients remotely. However, transversal telemedicine practice also exists among healthcare professionals (HCPs). We present details of our telemedicine practice among HCPs in the last 10 years. A web-based informatic platform was developed, with a continuously updated hyperte...

Objectives Although inherited retinal disorders (IRDs) related to the gene encoding the retinal pigment epithelium 65kD protein (RPE65) significantly impact the vision-related quality of life (VRQoL), their emotional and social aspects remain poorly investigated in Italy. Narrative Medicine (NM) reveals the more intimate aspects of the illness expe...

Background: Diabetic retinopathy (DR) is a neurovascular disease, characterized by a deficiency of brain-derived neurotrophic factor (BDNF), a regulator of autophagy. Beta-hydroxybutyrate (BHB), previously reported as a protective agent in DR, has been associated with BDNF promotion. Here, we investigated whether systemic BHB affects the retinal le...

Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying BBS10 mutations. Twenty-nine BBS patients and 30 controls underwent a serum targeted metabolomic analysis. In vitro studies were conducted in two kidney-derived epithelial cell lines, where Bbs10 was stably deleted (IMCD3...

Objectives To compare choroidal vascularity index (CVI) measurements using the automated image binarization algorithm in healthy subjects with two Spectralis spectral-domain optical coherence tomography (SD-OCT) protocol scans. Methods Sixty-nine eyes of 69 healthy volunteers were included in this cross-sectional prospective study. Two subsequent...

Over the past couple of years, Transformers became increasingly popular within the deep learning community. Initially designed for Natural Language Processing tasks, Transformers were then tailored to fit to the Image Analysis field. The self-attention mechanism behind Transformers immediately appeared a promising, although computationally expensiv...

Anti-vascular endothelial growth factor nowdays represents the standard of care for diabetic macular edema (DME). Nevertheless, the burden of injections worldwide has created tremendous stress on the healthcare system during the COVID-19 pandemic. The aim of this study was to investigate the effects of the oral administration of Curcuma longa and B...

Purpose: To assess the accuracy of the following intraocular lens (IOL) power formulas: Barrett True-K No History (BTKNH), Emmetropia Verifying Optical 2.0 Post Myopic LASIK/PRK (EVO 2.0), Haigis-L, American Society of Cataract and Refractive Surgery (ASCRS) average, and Shammas, designed for patients who have undergone previous myopic refractive...

The most frequent retinal diseases, such as diabetic retinopathy, age-related macular degeneration and posterior uveitis, are underlined by oxidative stress or aging-induced retinal inflammation, which contributes to vision impairing or loss. Resolution of inflammation is emerging as a critical phase able to counteract the inflammatory process lead...

Precis: All devices evaluated in this study showed a significant underestimation in intraocular pressure measurement after myopic PRK, Goldmann tonometer more than others. Corneal biomechanics indicated a different influence on the different kinds of tonometry. Purpose: To investigate the reliability of Goldmann applanation tonometry (GAT), rebo...

Background Corneal collagen cross-linking (CXL) is considered an effective procedure for slowing down or eliminating the progression of keratoconus. New techniques, in combination with CXL, have been proposed to stop the evolution of keratoconus and improve the visual function. Objective To evaluate the effectiveness of combined photorefractive ke...

Purpose: This study explored the possibility of highlighting early retinal neurovascular alterations of diabetic retinopathy (DR) by monitoring in DR patients the serum levels of microglial biomarkers ionized calcium-binding adapter molecule 1 (Iba-1), glucose transporter 5 (GLUT5), and translocator protein (TSPO), along with serum changes of the...

Purpose: Retinol dehydrogenase (RDH)5 related fundus albipunctatus (FAP) can present with phenotypic variability. Our purpose was to investigate new clinical characteristics and multimodal imaging findings in patients from different ethnic origins, carrying different mutations. Methods: Multicenter international retrospective case series. 18 pat...

Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene. Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements....

Introduction: Müller glial cells typically activate to react to hypoxic tissue damage in several retinal diseases. We evaluated the in vitro response to a hypoxia-mimicking stimulus on the expression of a set of genes, known to contribute to eye morphogenesis and cell differentiation. Materials and methods: A MIO-M1 Müller cell line was cultured...

Background This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec. Methods An expert steering committee comprising an interdisciplinary panel of Italian experts in the three fields of medical specialisation involved in...

Purpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients,...

Background: Artificial intelligence (AI) is becoming ever more frequently applied in medicine and, consequently, also in ophthalmology to improve both the quality of work for physicians and the quality of care for patients. The aim of this study is to use AI, in particular classification tree, for the evaluation of both ocular and systemic feature...

Split intein-mediated protein trans-splicing expands AAV transfer capacity, thus overcoming the limited AAV cargo. However, non-mammalian inteins persist as trans-splicing by-products, and this could raise safety concerns for AAV intein clinical applications. In this study, we tested the ability of several degrons to selectively decrease levels of...

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in...

Purpose: To present visual outcomes of the first two Italian patients with RPE65-related inherited retinal dystrophy (RPE65-IRD) treated with voretigene neparvovec (VN). Methods: Two pediatric patients with RPE65-IRD were treated with VN in both eyes. Patients were evaluated by best-corrected visual acuity (BCVA), full-field stimulus threshold (...

This study aimed to investigate the interactions between fingolimod, a sphingosine 1-phosphate receptor (S1PR) agonist, and melanocortin receptors 1 and 5 (MCR1, MCR5). In particular, we investigated the effects of fingolimod, a drug approved to treat relapsing-remitting multiple sclerosis, on retinal angiogenesis in a mouse model of diabetic retin...

IntroductionTo compare the functional and anatomic outcomes between eyes in patients with diabetic macular edema (DME) who underwent a complete anti-vascular endothelial growth factor (VEGF) loading dose with aflibercept and those who were switched to dexamethasone intravitreal (DEX) implant after an incomplete anti-VEGF treatment regimen during th...

Aim To evaluate the real utilization of ranibizumab and aflibercept in the daily management of patients with neovascular age-related macular degeneration (nAMD) treated at the Eye Clinic of Campania University L.Vanvitelli. Background Therapy with anti-vascular endothelial growth factor represents the gold standard in wet age-related macular degen...

Choroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the CHM gene product, i.e., Rab escort protein isoform 1 (REP1). To date, gene therapy for CHM has shown variable effectiveness, likely because the underlying pathogenic mechanisms as well as genotype-phenotype correlation are not yet fully known. Small nucleot...

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigm...

Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping and genetic characterization of 32 Italian patients with a nonsyndromic retinal dystrophy and mutations in the CEP290 gene. Methods: We reviewed the clinical history and examinations of 32 patients with a nonsyndromic retinal dystrophy due to mutations in the C...

Purpose: The purpose of this study was to investigate the relationship between perfusion of the choriocapillaris (CC) and retinal sensitivity in eyes with intermediate age-related macular degeneration (iAMD). Methods: This prospective study included patients with iAMD and healthy controls. All enrolled subjects underwent optical coherence tomogr...

The photopupillary reflex regulates the pupil reaction to changing light conditions. Being controlled by the autonomic nervous system, it is a proxy for brain trauma and for the conditions of patients in critical care. A prompt evaluation of brain traumas can save lives. With a simple penlight, skilled clinicians can do that, whereas less specializ...

Background Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients’ diagnosis, prognosis, surveillance and therapy. Methods The present study applied a Next Generation Sequencing (NGS)-based panel, named NephroPlex, testing 115 genes causing renal diseases, to 119 individuals,...

[This corrects the article DOI: 10.1155/2016/7368389.].

Aims: To evaluate both donor and recipient features involved in visual acuity restoring and complication insurgence in eyes that have undergone Descemet stripping automated endothelial keratoplasty (DSAEK). Methods: In this retrospective study, charts of 111 eyes of 96 patients (mean age 70.25 ± 8.58 years) that underwent DSAEK were evaluated. Only...

Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural deafness, urinary tract problems, neurological and psychiatric disorders. Most WFS patients show type...

The use of chromatic pupil responses may be a novel way to diagnose and monitor diseases affecting either the outer or inner retina.

Background/objectives To compare the number of eye surgical procedures performed in Italy in the 2 months following the beginning of lockdown (study period) because of COVID-19 epidemic with those performed in the two earlier months of the same year (intra-year control) and in the period of 2019 corresponding to the lockdown (inter-year control)....

Objective To determine whether functional vision and visual function improvements after voretigene neparvovec (VN; LUXTURNA®, Spark Therapeutics, Inc.) administration in subjects with biallelic RPE65 mutation-associated inherited retinal disease are maintained at 3–4 years, and to review safety outcomes. Design Open-label, randomized, controlled p...

Cystoid spaces (CSs) are a common retinal finding in choroideremia (CHM) patients. The aim of this study was to analyze the vascular features of the choroid associated with the presence of CSs in patients with confirmed genetic diagnosis of CHM. A total of 33 patients (33 eyes) were enrolled in this retrospective cross-sectional study and divided i...

Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization of an Italian cohort comprising 21 ACHM patients (17 unrelated families). Molecular genetic testing i...

In this study we analyzed the expression of circulating miRNAs, in the serum of diabetic retinopathy (DR) patients. Five miRNAs (hsa-miR-195-5p, hsa-miR-20a-5p, hsa-miR-20b-5p, hsa-miR-27b-3p and hsa-miR-451a) were validated as biomarkers for stratification of DR stages, from the early non-proliferative (NPDR) to the late proliferative (PDR) phase....

Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period. Methods: An Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was clinically assessed at a single center (mean follo...

The purpose of the study is to evaluate the corneal biomechanical properties (CBP) and their behaviors after myopic refractive surgery both with Ocular Response Analyzer (ORA) and Corvis ST (CST). This retrospective study included 145 eyes of 145 patients with a mean age of 33.13 ± 9.24 years, who underwent myopic photorefractive keratectomy (PRK)...

Aims: To evaluate the ocular and systemic factors involved in cataract surgery complications in a teaching hospital using artificial intelligence. Methods: One eye of 1,229 patients with a mean age of 70.2 ± 10.3 years old that underwent cataract surgery was selected for this study. Ocular and systemic details of the patients were recorded and then...

Background Urine concentrating defect is a common dysfunction in ciliopathies, even though its underlying mechanism and its prognostic meaning are largely unknown. This study assesses renal function in a cohort of 54 Bardet–Biedl syndrome (BBS) individuals and analyses whether renal hyposthenuria is the result of specific tubule dysfunction and pre...

Background: Fingolimod (FNG) is associated with the development of symptomatic macular edema (ME) in a small subset of multiple sclerosis (MS) patients. By using spectral domain optical coherence tomography (SD-OCT), an increase in the total macular volume (TMV) was rarely detected during the first months of treatment. Objectives: The objective...

Peroxisomal biogenesis disorders (PBD) are rare autosomal recessive disorders with various degrees of severity caused by hypomorphic mutations in 13 different peroxin (PEX) genes. In this study, we report the clinical and molecular characterization of a 9-years-old female presenting an apparently isolated pre-lingual sensorineural hearing loss (SNH...

Background: Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis is the finding of a macular cherry-red spot on o...

We investigated the genetic origin of the phenotype of three children from two unrelated Italian families presenting with a previously-unrecognized, seemingly autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), as wel...

Purpose: to evaluate the effect of biofeedback (BF) rehabilitation on the visual function and on the activity of primary visual cortex (PVC) in patients with Stargardt's disease owing to mutations in the ABCA4 gene (STGD1). Methods: This was a single-center, controlled, randomized study. Twenty-four patients with STGD1 were randomized into two g...

Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inv...