Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Purpose: To investigate the prevalence of cystoid macular edema (CME) in relation to the disease-causing genes in a large cohort of genetically defined patients with non-syndromic retinitis pigmentosa (RP).

Methods: Spectral-domain optical coherence tomography (SD-OCT) imaging has been retrospectively reviewed in order to assess the presence of CME over the disease course in a cohort of 580 patients with a clinical and genetic diagnosis of non-syndromic RP.

Results: Over the course of the disease, 179 patients (30.

Neural representation of action features across sensory modalities: A multimodal fMRI study.

Action representation and the sharing of feature coding within the Action Observation Network (AON) remain debated, and our understanding of how the brain consistently encodes action features across sensory modalities under variable, naturalistic conditions is still limited. Here, we introduce a theoretically-based taxonomic model of action representation that categorizes action-related features into six conceptual domains: Space, Effector, Agent & Object, Social, Emotion, and Linguistic. We assessed the predictive power of this model on human brain activity by acquiring functional MRI (fMRI) data from participants exposed to audiovisual, visual-only, or auditory-only versions of the same naturalistic movie.

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.

Importance: Uncovering the genetic basis of inherited retinal diseases (IRDs) can enhance both diagnostic accuracy and the development of targeted treatment strategies.

Objective: To evaluate the association between a homozygous nonsense variant in CREB3 with IRDs.

Design, Setting, And Participants: Thirteen patients with a clinical diagnosis of retinitis pigmentosa or cone-rod degeneration were analyzed by whole-genome sequencing (WGS) and whole-exome sequencing (WES).

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.

Background: Anatomic features characterizing the onset and progression of Retinitis Pigmentosa (RP) are still not clear and increasing interest has grown towards the impaired retinal flow in such disease. However, to date there are still few and inconsistent data exploring the changes reflected in vascular plexuses during the disease course, in particular regarding Choriocapillaris (CC). Therefore, the purpose of this study aimed at evaluating the CC perfusion in a cohort of males with -related X-Linked RP (XLRP).

Lutein-based dye vitrectomy for idiopathic epiretinal membrane: a pilot study.

Introduction: The use of vital dyes is essential for enhancing visualization of the vitreous and vitreoretinal interface during surgery. In this study, we evaluated the efficacy of a new lutein-based vital dye (LB-VD) for selective staining of the vitreous body and posterior hyaloid in patients undergoing 25 G vitrectomy for idiopathic epiretinal membrane (ERM).

Methods: A total of 18 patients who underwent ERM surgery assisted by LB-VD were retrospectively analyzed.

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Splice-altering variants are suggested to be responsible for part of the missing heritability of inherited retinal diseases (IRDs). The interpretation of these variants is challenging as functional evidence is required to validate pathogenicity. We explored the diagnostic value of a targeted long-read cDNA sequencing (lrcDNA-seq) approach to investigate IRD-associated splicing defects.

Evaluation of Reliability of Formulas for Intraocular Lens Power Calculation After Hyperopic Refractive Surgery.

We evaluate the accuracy of intraocular lens (IOL) power calculation in the following formulas-Barrett True-K No History (BTKNH), EVO 2.0 Post-Hyperopic LASIK/PRK (EVO 2.0), Haigis-L, Pearl-DGS, and Shammas (SF)-with patients who have undergone cataract surgery at the Eye Unit of University of Campania Luigi Vanvitelli, Naples, Italy, and had prior hyperopic laser refractive surgery.

Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models.

Retinal gene therapy using dual adeno-associated viral (AAV) intein vectors can be applied to genetic forms of blindness caused by mutations in genes with coding sequences that exceed single AAV cargo capacity, such as Stargardt disease (STGD1), the most common inherited macular dystrophy. In view of clinical translation of dual AAV intein vectors, here we set to evaluate both the efficiency and safety of their subretinal administration in relevant large animal models. Accordingly, we have developed the first pig model of STGD1, which we found to accumulate lipofuscin similarly to patients.

First results of direct selective laser trabeculoplasty for the treatment of glaucoma.

Aim: To evaluate the efficacy and safety of direct selective laser trabeculoplasty (DSLT) on eyes with primary open-angle glaucoma (POAG) and on primary angle closure glaucoma (PACG) eyes at 1 year follow-up.

Methods: In this study, 54 patients affected by POAG (76) or PACG (28) undergoing DSLT were enrolled, for a total of 104 eyes. Before each treatment and at each follow-up visit, all subjects underwent a complete eye visit, including the collection of data regarding the number and type of topical medications prescribed for glaucoma.

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.

Introduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes. The present study analyzed kidney function in patients with BBS, with the aim to explore the impact of genetic variants and common risk factors for kidney disease.

Evaluation of Long-Term Effects of Selective Laser Trabeculoplasty in Patients With Primary Open Angle Glaucoma.

Prcis: Data coming from this study suggest that selective laser trabeculoplasty could be a very important tool in the overall management of glaucoma patients at every stage, aiming to better control the visual field deterioration.

Purpose: To evaluate selective laser trabeculoplasty (SLT) effectiveness in lowering intraocular pressure (IOP) and in visual field defect progression in eyes affected by primary open angle glaucoma (POAG) at long-term follow-up.

Methods: A retrospective study was conducted with 67 eyes of 67 patients affected by POAG who underwent SLT between 2014 and 2021.

Treatment of neovascular age-related macular degeneration: one year real-life results with intravitreal Brolucizumab.

Background: Age-related macular degeneration (AMD) is a prevalent cause of irreversible vision loss worldwide, particularly among the elderly population. Two forms of late AMD are described: neovascular AMD (nAMD), characterized by abnormal choroidal blood vessel growth, and atrophic (dry) AMD, involving retinal cell degeneration. Intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents have transformed nAMD treatment, with Brolucizumab emerging as a promising therapy.

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Photobiomodulation Therapy for Serous Pigment Epithelium Detachment in Chronic Central Serous Chorioretinopathy.

Purpose: To report a case of giant pigment epithelium detachment (PED) secondary to chronic central serous chorioretinopathy (cCSC) successfully treated with photobiomodulation (PBM).

Methods: Case report.

Results: A 55-year-old man complained a worsening of vision in the left eye (LE) over the last 18 months.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

Fluorescein angiography patterns and subretinal hyperreflective material predict subthreshold micropulse laser response in chronic central serous chorioretinopathy.

Background: To investigate predictors of navigated subthreshold micropulse laser (SML) treatment in chronic central serous chorioretinopathy (cCSC).

Methods: In this single-center prospective consecutive case series, patients with cCSC were treated with 577 nm SML and followed up for 12 months. A complete ophthalmological evaluation including spectral optical coherence tomography (SD-OCT), fluorescein angiography (FA) and microperimetry (MP) was performed.

Utilising Narrative Medicine to Identify Key Factors Affecting Quality of Life in Dry Eye Disease: An Italian Multicentre Study.

Introduction: Despite an improved understanding of its pathogenesis, dry eye disease (DED) remains relatively underestimated and its treatment challenging. A better alignment between the clinical evaluation and the patient self-assessment also requires capturing the whole patient experience of DED. This project aimed to unveil this experience through narrative medicine (NM).

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age.

Sensitivity and specificity of the action observation network to kinematics, target object, and gesture meaning.

Hierarchical models have been proposed to explain how the brain encodes actions, whereby different areas represent different features, such as gesture kinematics, target object, action goal, and meaning. The visual processing of action-related information is distributed over a well-known network of brain regions spanning separate anatomical areas, attuned to specific stimulus properties, and referred to as action observation network (AON). To determine the brain organization of these features, we measured representational geometries during the observation of a large set of transitive and intransitive gestures in two independent functional magnetic resonance imaging experiments.

Accuracy of formulas for intraocular lens power for eyes undergoing descemet stripping automated endothelial keratoplasty and cataract surgery.

Background: To compare accuracy in intraocular lens (IOL) power calculation in eyes undergoing combined cataract and Descemet stripping and automated endothelial keratoplasty (C-DSAEK) surgery of the following formulas: Barrett Universal II, EVO, Haigis, Hoffer Q, Holladay 2, Kane and SRK/T.

Methods: 72 eyes from 72 patients (38 males, (53%)) with a mean age 68.08 ± 8.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Purpose: We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.

Methods: Fifty-three patients (mean age, 33.6 ± 16.

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.

Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome sequencing (WGS) has been reported to improve this diagnostic rate by revealing elusive variants, such as structural variants (SVs) and deep intronic variants (DIVs).

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.

Biallelic mutations in the RPE65 gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment. To date, real life experience has demonstrated functional improvements following VN treatment, which are consistent with the clinical trials outcomes.

Ocular pharmacological and biochemical profiles of 6-thioguanine: a drug repurposing study.

Introduction: The purine analog 6-thioguanine (6TG), an old drug approved in the 60s to treat acute myeloid leukemia (AML), was tested in the diabetic retinopathy (DR) experimental setting along with a molecular modeling approach.

Methods: A computational analysis was performed to investigate the interaction of 6TG with MC1R and MC5R. This was confirmed in human umbilical vein endothelial cells (HUVECs) exposed to high glucose (25 mM) for 24 h.