Peter Charbel Issa
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View article: Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2
Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2 Open
Patients with PXE demonstrate significant rod-mediated dark adaptation deficits correlating with the temporal inner peau d'orange boundary extent. These findings support the use of BrM calcification extent as an objective marker for diseas…
View article: Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease Open
Background: Stargardt disease (STGD1) due to biallelic mutations in the ABCA4 gene is the most frequent single-gene retinal disease with a genetic prevalence of about 1 in 7,000. Pathology in STGD1 is due to dysfunction of a retina-specifi…
View article: LONG-TERM PROGRESSION OF ELLIPSOID ZONE LOSS AND ASSOCIATED FEATURES ON OPTICAL COHERENCE TOMOGRAPHY IN MACULAR TELANGIECTASIA TYPE 2
LONG-TERM PROGRESSION OF ELLIPSOID ZONE LOSS AND ASSOCIATED FEATURES ON OPTICAL COHERENCE TOMOGRAPHY IN MACULAR TELANGIECTASIA TYPE 2 Open
EZ loss in MacTel follows a characteristic sigmoid trajectory, with distinct morphologic types predicting progression velocity. While Pattern 1 lesions remain stable for longer periods, Pattern 2 and 3 indicate fast progression. These find…
View article: Decoding the Surgical Scene: A Scoping Review of Scene Graphs in Surgery
Decoding the Surgical Scene: A Scoping Review of Scene Graphs in Surgery Open
Scene graphs (SGs) provide structured relational representations crucial for decoding complex, dynamic surgical environments. This PRISMA-ScR-guided scoping review systematically maps the evolving landscape of SG research in surgery, chart…
View article: Analysing the translatability of macular hole size measurements between high-density horizontal and radial OCT scan patterns
Analysing the translatability of macular hole size measurements between high-density horizontal and radial OCT scan patterns Open
Objective To assess the interchangeability of minimum linear diameter (MLD) macular hole (MH) size measurements in high-density horizontal and radial scan modes in optical coherence tomography (OCT). Methods and analysis 60 patients with a…
View article: Pre-Surgical Planner for Robot-Assisted Vitreoretinal Surgery: Integrating Eye Posture, Robot Position and Insertion Point
Pre-Surgical Planner for Robot-Assisted Vitreoretinal Surgery: Integrating Eye Posture, Robot Position and Insertion Point Open
Several robotic frameworks have been recently developed to assist ophthalmic surgeons in performing complex vitreoretinal procedures such as subretinal injection of advanced therapeutics. These surgical robots show promising capabilities; …
View article: Extended phenotypic spectrum of benign yellow dot maculopathy
Extended phenotypic spectrum of benign yellow dot maculopathy Open
Background To present the morphological and functional characteristics of individuals with benign yellow dot maculopathy (BYDM). Methods Assessments included ocular examinations, best-corrected visual acuity (BCVA) testing, optical coheren…
View article: Painful vision loss during air travel after vitrectomy with air tamponade: a case report
Painful vision loss during air travel after vitrectomy with air tamponade: a case report Open
Background While the potentially hazardous effects of intraocular perfluorocarbon gases during air travel have been recognized, the equivalent risk of intraocular air tamponade is less known and has, to the best of our knowledge, not been …
View article: De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Open
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 de novo variants in the …
View article: Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute Open
Introduction: The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European…
View article: Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2
Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2 Open
Importance Deep learning image analysis often depends on large, labeled datasets, which are difficult to obtain for rare diseases. Objective To develop a self-supervised approach for automated classification of macular telangiectasia type …
View article: Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study
Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study Open
Introduction X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, …
View article: Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period
Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period Open
Significant thickness losses could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with PROM1-associated retinal degeneration. Loss of thickness and/or intact area of such layers may serve as potential endp…
View article: Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia
Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia Open
Patterns on AF imaging may represent a novel, objective outcome measure for clinical trials in choroideremia as a surrogate for retinal function.
View article: Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration
Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration Open
Subclinical AS in eyes with AMD is a peculiar phenotype of the disease, with features suggesting a primary involvement of Bruch's membrane and clinical similarities with mild, late-onset pseudoxanthoma elasticum.
View article: Unmet needs and future perspectives in hydroxychloroquine retinopathy
Unmet needs and future perspectives in hydroxychloroquine retinopathy Open
Retinopathy is a well-recognized toxic effect of hydroxychloroquine treatment. As hydroxychloroquine retinopathy is potentially a vision-threatening condition, early detection is imperative to minimize vision loss due to drug toxicity. How…
View article: Hydroxychloroquine-induced Retinal Toxicity
Hydroxychloroquine-induced Retinal Toxicity Open
Long-term use of hydroxychloroquine can cause retinopathy, which may result in severe and progressive visual loss. In the past decade, hydroxychloroquine use has markedly increased and modern retinal imaging techniques have enabled the det…
View article: Topographic patterns of retinal lesions in multiple evanescent white dot syndrome
Topographic patterns of retinal lesions in multiple evanescent white dot syndrome Open
Purpose To demonstrate different topographic distributions of multiple-evanescent white dot syndrome (MEWDS) and secondary MEWDS disease and to describe possible associations. Methods Clinical evaluation and multimodal retinal imaging in 2…
View article: Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey Open
Introduction: The aim of this study was to evaluate the current management of RPE65 biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of voretigene neparvovec (VN, LuxturnaTM) in …