Efficacy and Safety of Diode Laser Transscleral Cyclophotocoagulation in Patients with Glaucoma.

Purpose: To evaluate the efficacy and safety of transscleral diode cyclophotocoagulation (TSCPC) at 2 years of follow up.

Methods: This is a retrospective review of the records of all adult patients who underwent their first TSCPC treatment between 2014 and 2019 at Unidade Local de Saúde de São João, Porto, Portugal. Data regarding intraocular pressure (IOP), best corrected visual acuity, number of IOP-lowering medications, use of oral acetazolamide, retreatments and complications during a 2-year period following TSCPC were registered.

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.

Predictors of Glaucoma After Pediatric Cataract Surgery.

Prcis: Glaucoma after pediatric cataract surgery is common and challenging. Age at surgery and the presence of microcornea or other anterior segment (AS) abnormalities can be used to identify those at greatest risk.

Objective: To establish risk factors for developing glaucoma after pediatric cataract surgery [glaucoma following cataract surgery (GFCS)].

Effect of Repeated Intravitreal Injections in Glaucoma Spectrum Diseases.

Purpose: To evaluate whether repeated intravitreal injections (IVI) with an anti-vascular endothelial growth factor (anti-VEGF) agent are associated with glaucomatous progression in eyes with glaucoma spectrum diseases (GSD).

Methods: Single-center, retrospective, longitudinal study of patients with bilateral and similar GSD who: (1) received ≥8 IVI in only one eye during the study period; (2) had ≥2 retinal nerve fiber layer thickness (RNFL) measurements obtained by spectral-domain optical coherence tomography (SD-OCT) at least 12 months apart. The primary outcome was the absolute RNFL thickness change, comparing injected and fellow uninjected eyes.

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery.

Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.

Background: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (). We report a case series of three female patients with OFCD syndrome with severe glaucoma.

Results: Three female patients with OFCD syndrome with different variants involving gene, in heterozygosity: a seven-years-old girl with an insertion (c.

Effect of Prior Phacoemulsification Surgery in Trabeculectomy Surgery Outcomes.

Purpose: To evaluate whether previous clear-cornea phacoemulsification surgery affects the surgical outcomes of trabeculectomy in open-angle glaucoma (OAG).

Methods: We performed a retrospective cohort study, which included 82 patients with OAG that underwent trabeculectomy between January 1, 2010, and December 31, 2017. The primary outcome was the probability of surgical failure.

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified.

Quantitative Optical Coherence Tomography Angiography Biomarkers for Alport Syndrome.

Purpose: The aim of this study was to evaluate microvascular abnormalities of patients with Alport syndrome (AS) using optical coherence tomography angiography (OCT-A) quantitative biomarkers.

Methods: This was cross sectional, prospective evaluation of consecutive patients with AS and healthy subjects. AS diagnosis was performed by the genetic test.

Anterior Chamber Versus Ciliary Sulcus Ahmed Glaucoma Valve Tube Placement: Longitudinal Evaluation of Corneal Endothelial Cell Profiles.

Prcis: An Ahmed glaucoma valve (AGV) tube in the ciliary sulcus (CS) is safer for the endothelium. At 4 years of follow-up, there was a significant decrease in endothelial cell count only with anterior chamber (AC) placement.

Purpose: Corneal endothelium (CE) damage is one of the most feared long-term complications that can result from glaucoma drainage devices.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR).

Methods: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG.

Implementing ICHOM standard set for cataract surgery at IPO-Porto (Portugal): clinical outcomes, quality of life and costs.

Background: This paper fills a gap in the applied research field, for a local context, by addressing the topics of describing cataract surgery' clinical outcomes; quality of life (QoL); and costs of the patients treated after the implementation of the ICHOM standard set.

Methods: This is a retrospective observational study using real-world data (RWD). We included all patients subjected to cataract surgery at the Portuguese Institute of oncology - Porto (IPO-Porto), Portugal, after 3 months follow up period completed between 5th June 2017 and 21st May 2018.

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

Background: To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family.

Materials And Methods: Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic visual field (VF), and optical coherence tomography (OCT). Molecular analysis was performed by Sanger sequencing of the entire coding region of the gene.

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 () gene causes retinitis punctata albescens.

Background: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the gene.

Results: An 8-year-old Caucasian female has been complaining of nyctalopia for the last 2 years.

Bilateral Angle Narrowing and Acute Myopia Induced by Indapamide: A Case Report.

Purpose: To describe a clinical case of indapamide induced bilateral angle narrowing and acute myopia.

Materials And Methods: Clinical case report.

Results: A 37-year-old Caucasian emmetropic man presented to the Emergency Department with complaints of acute-onset bilateral blurry vision, nine days after starting treatment for arterial hypertension with a combination of indapamide and amlodipine.

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

Purpose: To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family.

Methods: Nine members of the family agreed to be examined. All had complete clinical eye examinations.

Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation.

Spectral Domain-Optical Coherence Tomography As a New Diagnostic Marker for Idiopathic Normal Pressure Hydrocephalus.

Purpose: Characterized by a progressive onset of gait disturbances, dementia, and urinary incontinence, idiopathic normal pressure hydrocephalus (iNPH) is considered a rare, but under-diagnosed disease. Non-invasive diagnostic markers are still insufficient to enable the diagnosis of iNPH with certainty and yet early treatment with ventriculoperitoneal (VP) shunting can reverse symptoms and stop disease progression. Vascular circulation abnormalities in iNPH may be reflected by changes in subfoveal and peripapillary choroidal thickness (PPChT).

Long-Term Effect of Anti-VEGF Agents on Intraocular Pressure in Age-Related Macular Degeneration.

Purpose: To analyze the effect of anti-vascular endothelial growth factor (VEGF) agents on intraocular pressure (IOP) in patients with neovascular age-related macular degeneration (AMD). Materials andMethods: This is a retrospective study that included 72 patients treated unilaterally with anti-VEGF agents according to a pro re nata regimen. Fellow noninjected eyes (n = 72) were used as controls.

Comparison of topical dorzolamide and ketorolac treatment for cystoid macular edema in retinitis pigmentosa and Usher's syndrome.

Purpose: To investigate the topical effect of dorzolamide versus ketorolac on retinitis pigmentosa (RP) and Usher's syndrome (US) macular edema.

Methods: Prospective, randomized and interventional study. A total of 28 eyes of 18 patients were included.

Pseudoexfoliation material on posterior chamber intraocular lenses.

The presence of pseudoexfoliation material on the surface of an intraocular lens (IOL) is a rare finding. We report a series of seven cases with different patterns of pseudoexfoliation material deposition on the posterior chamber IOLs, recognized 2-20 years after cataract surgery. Six patients had an IOL implanted in the capsular bag and one in the ciliary sulcus.