A5074976938- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Ocular Surface and Contact Lens
- Corneal surgery and disorders
- Corneal Surgery and Treatments
- Retinal and Optic Conditions
- melanin and skin pigmentation
- Retinopathy of Prematurity Studies
- Ocular Diseases and Behçet’s Syndrome
- Ophthalmology and Eye Disorders
- Retinal Imaging and Analysis
- Ocular Oncology and Treatments
- Systemic Lupus Erythematosus Research
- Ophthalmology and Visual Impairment Studies
- RNA regulation and disease
- Ocular Disorders and Treatments
- Retinal and Macular Surgery
- Genetic and Kidney Cyst Diseases
- Intraocular Surgery and Lenses
- Glycosylation and Glycoproteins Research
- Cellular transport and secretion
- interferon and immune responses
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic Syndromes and Imprinting
Imperial College London
2023-2025
University of Naples Federico II
1995-2025
Università degli Studi di Enna Kore
2024
Imperial College Healthcare NHS Trust
2018-2022
Western Eye Hospital
2017-2022
Federico II University Hospital
2018-2021
Ospedale Vincenzo Cervello
2019
Ceinge Biotecnologie Avanzate (Italy)
2006-2010
University College London
1998-2002
Ludwig-Maximilians-Universität München
2002
To determine whether subfoveal choroidal blood flow is altered in retinitis pigmentosa (RP) and this alteration associated with central cone-mediated dysfunction.In 31 RP patients (age range, 15-72 years) preserved visual acuity (range: 20/30-20/20), was measured by real-time, confocal laser Doppler flowmetry, focal macular (18°) electroretinograms (FERGs) were elicited 41 Hz flickering stimuli. Twenty normal subjects served as controls. The following average parameters determined based on...
Primary open angle glaucoma (POAG) is defined as a “genetically complex trait”, where modifying factors act on genetic predisposing background. For the majority of glaucomatous conditions, DNA variants are not sufficient to explain pathogenesis. Some genes clearly underlying more “Mendelian” forms, while growing number related polymorphisms in other have been identified recent years. Environmental, dietary, or biological known influence development condition, but interactions between these...
Background: Bimatoprost has emerged as a significant medication in the field of medicine over past several decades, with diverse applications ophthalmology, dermatology, and beyond. Originally developed an ocular hypotensive agent, it proven highly effective treating glaucoma hypertension. Its ability to reduce intraocular pressure established first-line treatment option, improving management preventing vision loss. In bimatoprost shown promising results promotion hair growth, particularly...
Purpose:To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods:We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected 1108 total individuals) genetically oCCDDs, integrating analyses pedigrees, human animal model phenotypes, de novo variants to rare candidate single nucleotide variants, insertion/deletions, structural disrupting protein-coding regions.Prioritized were...
Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis often crucial the definition of appropriate patient management and development potential personalized therapy.We developed next-generation-sequencing (NGS) protocol screening 18 most frequently mutated genes to define genotype clarify mutation spectrum...
Monocentric retrospective case series to describe clinical and molecular peculiarities in a of pediatric patients attempting possible genotype-phenotype correlation. We included 13 from 7 unrelated families (ages 1-18) with biallelic pathogenic likely variants RDH12 gene. For all our segregation analyses were performed their parents affected siblings. According cooperation, underwent complete ophtalmic examination imaging full field standard electroretinography (ffERG), spectral domain...
BACKGROUND The surgical management of corneal lesions resulting from eyelid pathologies requires a comprehensive approach to ensure optimal patient outcomes. Eyelid lesions, ranging benign malignant, can lead damage through mechanisms such as mechanical abrasion, secondary infection, or inflammatory responses. AIM To assess the methodologies utilized in treatment disorders and evaluate their effects on outcomes, recurrence rates, postoperative complications. incorporation advanced imaging...
Dry eye disease (DED) is a multifactorial disorder that disturbs ocular surface equilibrium, considerably diminishing quality of life. Present therapies only offer symptomatic alleviation. Stem cell treatment, especially mesenchymal stem cells (MSCs), has surfaced as viable approach for tissue regeneration and immunological regulation in DED. Preclinical early clinical investigations indicate MSCs can improve lacrimal gland functionality, diminish inflammation, facilitate corneal...
Background and Objectives: Dry eye disease (DED) affects 5–50% of the global population deeply influences everyday life activities. This study compared efficacy, tolerability, safety novel Respilac artificial tears containing lipidure hypromellose (HPMC) with widely used Nextal tears, which are also HPMC-based, for treatment moderate DED in contact lenses (CL) wearers. Materials Methods: In a prospective, single-center, randomized investigation, 30 patients aged ≥18 years, diagnosed DED,...