Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

This study aims to characterize the clinical spectrum and genetic landscape of IRDs in Portugal. Multicentre, cross-sectional, cohort study comprising consecutive patients with a clinical diagnosis of IRD and available genetic results, enroled in the IRD-PT registry (retina.com.

Modified ex-PRESS technique versus Ahmed glaucoma valve as primary glaucoma surgery for hereditary transthyretin amyloidosis glaucoma.

Background: To compare the efficacy of modified Ex-PRESS technique (ExP) versus Ahmed Glaucoma Valve (AGV) as primary surgery in hereditary transthyretin amyloidosis (ATTRv) secondary glaucoma.

Methods: Retrospective study at the national amyloidosis centre. Success was defined as an IOP ≥ 6 mmHg and ≤ 21 mmHg with no need for further glaucoma surgery or laser trabeculoplasty and without loss of light perception at the time of the last follow-up.

Brain MRI in patients with V30M hereditary transthyretin amyloidosis.

Background: Central nervous system dysfunction is common in longstanding hereditary transthyretin amyloidosis (ATTRv) caused by the V30M (p.V50M) mutation. Neuropathology studies show leptomeningeal amyloid deposition and cerebral amyloid angiopathy (CAA).

The socioeconomic epidemiology of inherited retinal diseases in Portugal.

Background: Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures.

The Visual Impairment of Inherited Retinal Diseases in Portugal as per the National Table of Disabilities.

Purpose: To evaluate the visual impairment of patients with inherited retinal diseases (IRDs), as per the national table of disabilities (TNI).

Design: Retrospective, single-center cohort study.

Participants: Patients with a clinical diagnosis of IRD were recruited at a referral center in Portugal.

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal.

Comparison of Light-Based Devices in the Treatment of Meibomian Gland Dysfunction.

Purpose: To compare different light-based devices, namely, intense pulsed light (IPL) and IPL with low-level light therapy (LLLT), in the treatment of meibomian gland dysfunction (MGD).

Methods: This was a prospective, observational study that included patients with MGD. Group 1 included 58 eyes treated with IPL (eye-light®, Espansione Marketing S.

Ocular Surface Changes in Primary Open Angle Glaucoma Patients Treated With Topical Antihypertensive Drugs.

Prcis: In this study, patients with glaucoma undergoing topical antihypertensive (TAH) drugs had changes in the ocular surface and more dry eye symptoms than controls. Clinicians should recognize the influence of TAH drops on exacerbating ocular surface disease.

Purpose: The purpose of this study was to evaluate the ocular surface of eyes with glaucoma treated with TAH drugs.

Modified Technique of Ex-PRESS Filtration Device Combined with a Scleral Pocket for Hereditary Transthyretin Amyloidosis (hATTR) Secondary Open-Angle Glaucoma.

Purpose: To evaluate the effectiveness and safety of a modified approach using the Ex-PRESS implant combined with a scleral pocket in the management of secondary open-angle glaucoma in hereditary transthyretin amyloidosis (hATTR) at our department.

Methods: This was a retrospective analysis. The primary endpoints included Intraocular pressure (IOP) evaluation (baseline, 1st day, 1st week, 1, 3, 6, 12 months and at last follow-up) and number of hypotensive drugs (baseline, 6th, 12th months and at last follow-up).

Low-Level Light Therapy in Association with Intense Pulsed Light for Meibomian Gland Dysfunction.

Purpose: To study the clinical benefit of low-level light therapy when associated with intense pulsed light for the treatment of meibomian gland dysfunction.

Methods: An observational study. Two groups of patients that were treated with IPL were considered: group 1 (31 subjects, 62 eyes), intense pulsed light followed by low-level light therapy and group 2 (31 subjects, 62 eyes) intense pulsed light alone.

Pulsed Light Therapy in the Management of Dry Eye Disease: Current Perspectives.

Purpose: To review the indications and efficacy of Intense Pulsed Light (IPL) application in the treatment of Meibomian Gland Dysfunction (MGD). Its main purpose is to describe its physiology, efficacy, indications, and adverse effects.

Patients And Methods: A two database (PubMed, EMBASE) search was performed from July 2017 to July 2022 using the MeSH terms ("Intense Pulsed Light" AND ("Meibomian Gland Dysfunction" OR "Dry Eye").

Quality of Vision After LASIK, PRK and FemtoLASIK: An Analysis Using the Double Pass Imaging System HD AnalyzerTM.

Purpose: Analyze and compare the quality of vision of Photorefractive keratectomy (PRK), LASER in situ keratomileusis with mechanical microkeratome (LASIK) and femtosecond-assisted LASIK (FS-LASIK) using the double-pass imaging system HD AnalyzerTM.

Setting: Ophthalmology department of Centro Hospitalar Universitário do Porto (CHUPorto).

Design: Retrospective, non-randomized, single center study.

Impact of COVID-19 pandemic on the ocular surface.

Background: There have been increased reports of dry eyes in the coronavirus disease 2019 (COVID-19) pandemic era.

Aim: To analyze the differences in tear film properties from pre- and post-pandemic of the COVID-19 era.

Methods: It was a retrospective comparative study.

Challenges, facilitators and barriers to the adoption and use of a web-based national IRD registry: lessons learned from the IRD-PT registry.

Rare disease registries increase research accessibility for patients, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research and patient care. The IRD-PT registry is a national, web-based, interoperable registry for inherited retinal degenerations (IRDs) designed to generate scientific knowledge and collect high-quality data on the epidemiology, genomic landscape and natural history of IRDs in Portugal. In two years, the number of enrolled patients almost doubled (537 to 1060).

A Systematic Review of Artificial Intelligence Applications Used for Inherited Retinal Disease Management.

Nowadays, Artificial Intelligence (AI) and its subfields, Machine Learning (ML) and Deep Learning (DL), are used for a variety of medical applications. It can help clinicians track the patient's illness cycle, assist with diagnosis, and offer appropriate therapy alternatives. Each approach employed may address one or more AI problems, such as segmentation, prediction, recognition, classification, and regression.

Refractive Surgery for Older Children and Adults with Accommodative Esotropia: A Systematic Review.

Introduction: Accommodative esotropia (AET) is characterized by an esodeviation of the eyes due to uncorrected hyperopia, deficient fusional divergence, or high accommodative convergence. Decreasing hyperopia would reduce accommodative convergence and strabismus. We sought to review the existing evidence regarding the outcomes of refractive surgery in patients with AET.

Long-term results in patients with iris-fixated foldable phakic intraocular lenses for myopia and astigmatism.

Purpose: To evaluate the long-term results of iris-fixated foldable phakic intraocular lens (pIOL) implantation for the management of myopia and astigmatism.

Setting: Centro Hospitalar Universitário do Porto, Oporto, Portugal.

Design: Prospective clinical study.

Choroidal changes and associations with visual acuity in diabetic patients.

Background: The variable visual function observed in diabetic retinopathy (DR) patients is not fully explained by the classic staging system. Our purpose was to evaluate choroidal changes, in standardized sectors, in DR patients and to find associations between choroidal measurements and visual function.

Methods: Cross-sectional study that included the right eye of diabetic patients (n = 265) without active edema, ischemia or neovascularization and age-matched controls (n = 73).

Keratoconus and Visual Performance with Different Contact Lenses.

Purpose: To analyze the visual performance in contact lens wearers with keratoconus.

Methods: A retrospective study including contact lens (CL) wearers was performed. The current best-corrected visual acuity with contact lens (BCVA-CL) and with spectacles (BCVA-S) correction, contrast sensitivity (CS) (by Metrovision-MonPack3), analysis of light scattering in the retina and vision break-up time (HD Analyzer), and corneal tomography (Oculus Pentacam HR) were evaluated.

CHOROIDAL INVOLVEMENT IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS PATIENTS.

Purpose: To compare the choroidal characteristics between the eyes of patients with and without hereditary transthyretin amyloidosis.

Methods: Case-control observational study with choroidal thickness and vasculature evaluation by optical coherence tomography with enhanced depth imaging protocol of the macula.

Results: The study included 332 eyes: 166 eyes of hereditary transthyretin amyloidosis patients and 166 eyes of healthy patients.

Clinical/Demographic Functional Testing and Multimodal Imaging Differences between Genetically Solved and Unsolved Retinitis Pigmentosa.

Introduction: The purpose of this study was to compare clinical/demographic functional testing and multimodal imaging features between genetically solved and genetically unsolved nonsyndromic retinitis pigmentosa (nsRP) patients.

Methods: A cross-sectional study was conducted at an inherited retinal dystrophies reference center. Consecutive patients with nsRP and available genetic testing results performed between 2018 and 2020 were included.

Transscleral Cyclophotocoagulation in Familial Amyloidotic Polyneuropathy Secondary Glaucoma after Ahmed Valve Implantation: A Case Series Study.

Purpose: To investigate the outcomes of transscleral cyclophotocoagulation (TSCPC) after Ahmed glaucoma valve (AGV) implantation failure in patients with familial amyloidotic polyneuropathy (FAP) secondary glaucoma.

Materials And Methods: In this retrospective study, all patients with secondary FAP glaucoma who underwent AGV implantation between 2010 and 2019 in our tertiary center were assessed. Among all, those patients who needed TSCPC to control intraocular pressure (IOP) after AGV were selected.

Retinal Sensitivity and Structural Changes after Focal Photocoagulation for Diabetic Macular Edema: A Multisectorial Comparison.

Introduction: The hindrance of a macular laser treatment for diabetic macular edema (DME) remains unclear. Our purpose was to evaluate macular functional and structural changes after focal macular photocoagulation for DME.

Methods: This is a prospective cohort study that included patients with mild diabetic retinopathy, submitted to focal macular laser treatment as monotherapy for DME.