Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.

Quality and readability of online information on Keratoconus in Portugal and Brazil.

Introduction: Keratoconus patients turn to the internet for answers to their disease expectations. Webpages are not filtered or submitted to evaluation before getting published. We aim to evaluate the quality and readability of the online information regarding keratoconus in Portugal and Brazil.

Hyperreflective ganglion cell layer band in a large cohort of non-syndromic retinitis pigmentosa: Frequency and clinical correlations.

Purpose: Recently, an 'hyperreflective ganglion cell layer band' (HGB) has been described on spectral-domain optical coherence tomography (SD-OCT) in a subset of patients with retinitis pigmentosa (RP). This study aims to validate and describe the frequency of HGB in a large cohort of Portuguese patients with RP.

Methods: This single-centre, cross-sectional cohort study included consecutive patients with a genetic diagnosis of RP.

Expanding the mutational and phenotypical spectrum of FHONDA syndrome.

Foveal hypoplasia, optic nerve decussation, and anterior segment dysgenesis (FHONDA) is a rare recessively inherited syndrome first described in 2013. FHONDA is associated with biallelic disease-causing variants in the gene, which has a strong expression in the photoreceptor layer. To date, 60 different disease-causing variants in the gene have been described.

Comparative Analysis of Combined Topography-Guided Photorefractive Keratectomy and Corneal Crosslinking in Progressive Versus Stable Keratoconus.

Purpose: To perform a comparative analysis of visual, refractive, and tomographic outcomes of combined topography-guided photorefractive keratectomy (TG-PRK) and corneal crosslinking (CXL) in patients with progressive versus stable keratoconus.

Methods: Longitudinal retrospective case-control study. Patients with keratoconus submitted to simultaneous TG-PRK and CXL were included, with a minimum follow-up of 12 months up to 3 years.

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.

Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with RPGR-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with RPGR-associated retinal degeneration using two validated patient-reported outcome measures.

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

Introduction: Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a Portuguese cohort of PXE patients.

Methods: Multicentric cross-sectional study conducted in patients with a clinical and genetic diagnosis of PXE.

Prognostic impact of hyperreflective foci in nonsyndromic retinitis pigmentosa.

Purpose: To evaluate the prognostic impact of hyperreflective foci (HRF) on spectral-domain optical coherence tomography (SD-OCT) in nonsyndromic retinitis pigmentosa (RP).

Methods: Retrospective, single-center cohort study including genetically-tested RP patients with a minimum follow-up of 24 months. Clinical data including demographics, genetic results and best-corrected visual acuity (BCVA) at baseline and follow-up were collected.

Dietary Intakes of Long-Chain Polyunsaturated Fatty Acids and Impulsivity: Comparing Non-Restricted, Vegetarian, and Vegan Diets.

Background: Research suggests a link between deficiencies in omega-3 long-chain polyunsaturated fatty acids (LCPUFAs) and impulsivity among psychiatric populations. However, this association is less evident in non-clinical populations. As omega-3 LCPUFAs are predominantly sourced through fish consumption, non-fish dieters may be more vulnerable to higher impulsivity.

Clinical Evaluation of a New Spectral-Domain Optical Coherence Tomography-Based Biometer.

The VEMoS-AXL system is a new optical biometer based on spectral domain optical coherence tomography (SD-OCT) that has been tested in terms of intrasession repeatability and compared with a swept-source optical coherence tomography biometer (SS-OCT), which is recognized as the gold standard for the performance of an agreement analysis. A biometric analysis was performed three consecutive times in 120 healthy eyes of 120 patients aged between 18 and 40 years with the SD-OCT system, and afterwards, a single measurement was obtained with the SS-OCT system. Within-subject standard deviations were 0.

Imaging characterization of the fellow eye in patients with unilateral polypoidal choroidal vasculopathy.

Introduction: New insights on polypoidal choroidal vasculopathy (PCV) have shed light regarding its pathophysiology and associations. However, PCV characterization is still incomplete in Caucasians, which is due to presumed lower prevalence in this population. Features typically associated with AMD such as drusen, retinal pigmentary changes or atrophy are seen in PCV, as precursors and in the fellow eye.

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.

Recreational cannabis policy reform-What mental health nurses need to know about minimising harm and contributing to the reform debate.

The recently rapidly evolving legal status of recreational cannabis in various countries has triggered international debate, particularly around measures required to minimise resulting harms. The present article argues that mental health nurses should have a key role in promoting safe and appropriate use of recreational cannabis, and minimising harm based on the extant evidence. The article summarises the factors driving legalisation, outlines the evident medicinal benefits of cannabis, and appraises the evidence on the negative mental health impacts associated with use.

The influence of personality on the quality of vision after multifocal intraocular lens implantation.

Objective: To assess the possible correlation between patients' personality traits and subjective perception of quality of vision (QoV), after multifocal intraocular lens (mIOL) implantation.

Methods: patients who had bilateral implantation of a non-diffractive X-WAVE or a trifocal lens were assessed 6 months postoperatively. Patients answered the NEO-Five Factor Inventory (NEO-FFI-20) questionnaire ("Big Five five-factor personality model") to examine their personality.

Topical tacrolimus in high-risk corneal transplants.

Purpose: The purpose of this study was to assess the use of topical tacrolimus ointment in preventing rejection in high-risk corneal grafts, when added to the standard immunosuppressive regimen.

Methods: We conducted an observational, retrospective study using clinical data of high-risk patients subjected to penetrating keratoplasty, who were treated with topical tacrolimus ointment 0.2 mg/g twice a day plus topical dexamethasone 0.

Mutational Spectrum, Ocular and Olfactory Phenotypes of -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with -associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers.

Comparison of outcomes between cross-linking plus topoguided excimer laser ablation and intrastromal corneal ring segments for keratoconus.

Objective: To compare cross-linking (CXL) plus topography-guided photorefractive keratectomy (t-PRK) and intrastromal corneal ring segments (ICRS) in keratoconus patients, at 12 months of follow-up.

Methods: This was a longitudinal, retrospective multi-center study. We included a referred sample of 154 eyes from 149 patients with grade I-III Amsler-Krümeich keratoconus with insufficient corrected-distance visual acuity (CDVA).

Self-reported visual function and psychosocial impact of visual loss in -associated retinal degeneration in a Portuguese population.

Purpose: To evaluate self-reported visual function and the psychosocial impact of visual loss EYS-associated retinal degeneration (EYS-RD) using two patient-reported outcome (PRO) measures: Michigan Retinal Degeneration Questionnaire (MRDQ) and Michigan Vision-related Anxiety Questionnaire (MVAQ).

Methods: Cross-sectional, single-center study conducted at a tertiary care hospital in Portugal. Patients with biallelic EYS variants were invited to participate.

Customized corneal crosslinking with excimer laser-assisted epithelium removal for progressive keratoconus: 1-year results.

Purpose: To evaluate the 1-year visual and tomographic results of customized crosslinking using excimer laser-assisted epithelium removal and topography-guided irradiation in the treatment of progressive keratoconus.

Setting: Coimbra Ophthalmology Unit, Private Practice, Coimbra, Portugal.

Design: Prospective nonrandomized clinical trial.

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.

Purpose: To describe the natural history, genetic landscape, and phenotypic spectrum of Eyes shut homolog (EYS)-associated retinal degeneration (EYS-RD).

Design: Retrospective, single-center cohort study complemented by a cross-sectional examination.

Subjects: Patients with biallelic EYS variants were recruited at an inherited RD referral center in Portugal.