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. RESULTS: This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44.8 ± 18.1 years. Patients living with an IRD were identified in 190 of the 308 municipalities. According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. Overall, regions with a higher prevalence of IRD have a lower population density (r=-0.371, p < 0.001), a higher illiteracy rate (r = 0.404, p < 0.001) and an overall older population (r = 0.475, p < 0.001). Additionally, there is a lower proportion of doctor per capita (r = 0.350, p < 0.001), higher social security pensions beneficiaries (r = 0.439, p < 0.001), worse water quality for human consumption (r=-0.194, p = 0.008), fewer audiences at the cinema (r=-0.315, p < 0.001) and lower proportion of foreign guests in tourist accommodations (r=-0.287, p < 0.001). CONCLUSION: The number of identified patients with IRD varied between regions. Using data from national statistics (PORDATA), we observed differences in socioeconomic characteristics between regions. Multiple targeted aid strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

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. Methods: Demographics and clinical data were collected from each individual patient file. The estimated visual disability coefficient was calculated through the evaluation of 7 graduated categories: orbital or eyelid deformities, low vision, visual field change, loss of bi-foveolar fixation, oculomotor palsy, photophobia, and chronic conjunctivitis. The TNI provides minimum and maximum disability values for numerous conditions within each category, which were summed to calculate an overall summary disability coefficient for each patient. Main Outcome Measures: Demographic/clinical and estimated minimum and maximum visual disability coefficient according to the TNI for each patient. Results: This study included 253 patients from 214 families, aged 3 to 80 years, with a mean age of 39.8 ± 20.0 years. The mean estimated minimum and maximum visual disability coefficients as per the TNI were 0.6 ± 0.4 and 0.7 ± 0.4, respectively. The low vision was the single most frequent contributor category (21.7%) present in the calculation of visual impairment. Low vision and visual field changes were the most frequent double combination (18.2%), and the addition of loss of bi-foveolar fixation was the most frequent triple combination (8.3%). Conclusions: This study found that IRD patients had a significant visual disability, with the majority having a disability coefficient ≥0.6, which would qualify them for a "multipurpose disability medical certificate." Financial Disclosures: The authors have no proprietary or commercial interest in any materials discussed in this article.

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. METHODS: Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. RESULTS: One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). CONCLUSION: This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients 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.p.A., Bologna, Italy), followed by LLLT (my-mask®, Espansione Marketing S.p.A., Bologna, Italy); Group 2 included 60 eyes treated with IPL (E>Eye®, E-Swin, Houdan, France); and Group 3 included 58 eyes treated with IPL (Thermaeye Plus®, OptiMed, Sydney, Australia). The presence of symptoms (Ocular Surface Disease Index (OSDI)) and ocular surface changes were evaluated at baseline, three weeks, and six months after treatment. RESULTS: At week three, there was an improvement in the OSDI in all groups (p<0.001), without differences among them (p=0.339). The lipid layer thickness (LLT) increased in Groups 1 and 2 (p<0.001), with a similar variation (p=0.144). Patients with superior OSDI and lower LLT at baseline had the greatest improvement in the respective parameters (p<0.001). The basal tear flow increased in Group 1 (p=0.012). Corneal staining (CS) significantly decreased in Groups 2 (p<0.001) and 3 (p<0.001). At six months, compared to three weeks, there was further improvement in the OSDI (p<0.001) and the LLT (p=0.007), in Group 1, and an increase in the presence of CS in Group 3 (p=0.011). CONCLUSION: IPL treatment led to a sustained decrease in patients' symptoms, even after six months. Different IPL devices seem to have different beneficial effects. Adding LLLT to IPL appears to have an additional long-term beneficial effect as well as positive effects on the lacrimal gland.

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. METHODS: Cross-sectional study that included eyes undergoing TAH drugs due to primary open angle glaucoma and controls. The parameters evaluated were: the basal tear flow (basic secretion test); the tear film osmolarity (TearLab); and the noninvasive break-up time, blink score, lipid layer thickness, tear meniscus height, and loss area of the meibomian glands, measured with the IDRA Ocular Surface Analyser. Presence of symptoms [Ocular Surface Disease Index (OSDI)], dry eye disease (DED, TFOS DEWS II criteria), and corneal fluorescein staining were assessed. RESULTS: We included 154 eyes (154 patients), 77 undergoing TAH drugs for glaucoma (group 1) and 77 of controls (group 2). The tear film osmolarity ( P =0.003) and the loss area of the meibomian glands ( P =0.004) were higher in group 1. The noninvasive break-up time ( P =0.005), lipid layer thickness ( P =0.006), and tear meniscus height ( P =0.001) were lower in group 1. The global OSDI score ( P <0.001), the proportion of eyes with severe disease ( P =0.002), according to the OSDI, and with DED ( P <0.001), according to the TFOS DEWS II criteria, were higher in group 1. The proportion of patients with corneal fluorescein staining was higher in group 1 ( P <0.001). There were no significant differences in eyes taking TAH drugs with and without preservatives ( P >0.127). CONCLUSIONS: DED, in patients with glaucoma, is a multifactorial disease, with a strong contribution from TAH drugs. These eyes had changes in almost every measured parameter, translating into the presence of more dry eye symptoms and corneal damage when compared with controls.

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). As secondary endpoints surgical complications, the need for additional glaucoma surgery and LogMAR BCVA were evaluated. Qualified and complete success were defined as ≥ 30% IOP decrease from baseline, with or without additional medications, respectively. The minimum follow-up was 12 months. Results: A total of 32 eyes were included with a mean follow-up of 2.4±2.9 years. IOP decreased significantly from baseline (27.4±4.4 mmHg) to 1st day (5.00±2.9 mmHg), 1st week (6.9±4.1 mmHg), 1st month (11.7±7.8 mmHg), 3rd month (11.6±6.1 mmHg), 6th month (13.1±6.8 mmHg), 12th month (12.0±3.5 mmHg) and last visit (11.8±2.4 mmHg), p<0.001. There was also a significant reduction in the number of antiglaucoma medications from baseline (3.8±0.6) and last follow-up (0.4±0.8), p<0.001. LogMAR BCVA remained stable (0.25±0.26 at baseline and 0.25±0.24 at last follow-up), p=0.767. Transient hypotony occurred in 17 eyes (53.1%), but only 11 (34.4%) exhibited anterior chamber shallowing and needed additional care, namely cycloplegic drops and viscoelastic injection. Complete surgical success was achieved in 22 eyes (68.8%) and qualified success in 6 eyes (18.8%). Four eyes (12.5%) needed additional glaucoma surgery. Conclusion: The modified ExPRESS® technique appears to be effective, especially when low levels of IOP are required. Additionally, fewer anti-glaucoma drugs were necessary. In the other hand, hypotony was a common side effect with this procedure, although all patients were properly handled, preserving the surgical outcomes.

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"). We included randomized studies and systematic reviews with meta-analysis. Exclusion criteria were non-randomized trials, studies enrolling non-MGD dry eye disease, and other works older than 5 years. Results: Current literature shows that IPL is an effective and safe treatment modality for severe dry eye. Available evidence shows improvement of symptoms and objective indicators, such as noninvasive breakup time, thickness of lipid layer, and Schirmer test. However, our review concluded that the beneficial effects of IPL may lose some efficacy at 6-months after the initial session, and subsequent sessions may be required. Thus, IPL treatment should not be considered as first-line therapy for MGD but instead as an adjuvant option to the standard of care. The optimal treatment modality remains unknown and should be tailored according to each patient's phenotype, clinician's experience, and available technology. There is evidence that IPL treatment may down-regulate pro-inflammatory markers (such as interleukin (IL) 6, IL17a, IL-1) and Prostaglandin E2 (PGE2). Conclusion: MGD is a multifactorial disease and IPL treatment seems a promising treatment modality. Despite this, more evidence is needed to study its benefits - since this is an emerging technology, it is expected an increase in comparative studies in the following years, with longer follow-up periods, which may enable more precise conclusions about this treatment modality.

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. In both groups, treatments were performed in 3 sessions and subjects were evaluated at baseline and 3 weeks after the last treatment session. Values are shown as mean difference ± standard deviation. Results: We observed a significant improvement in OSDI-12 score and lipid layer thickness, in both groups (-22.7±17.5, p<0.001 in group 1 and -23.6±23.8, p<0.001 in group 2 for OSDI and +18.6 ± 37.0, p<0.001 in group 1 and +19.9 ± 26.4, p<0.001 in group 2 for lipid layer thickness). Despite no differences between groups at baseline (p=0.469), only group 1 had a significant improvement in Schirmer test (+1.6±4.8, p=0.009 in group 1 and +1.7±6.9, p=0.057 in group 2). No significant side effects were noted. No patient in any group felt subjectively "worse" after the treatment. Conclusion: Intense pulsed light seems effective and safe for the treatment of meibomian gland dysfunction, improving symptoms and the tear film lipid layer. This study shows no strong evidence of the benefit of low-level light therapy, but it shows weak evidence that it may further improve aqueous tear production.

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. Methods: Analysis of three equivalent groups of patients submitted to PRK, LASIK and FS-LASIK at our department. The objective quality of vision assessment included the objective scatter index (OSI), the modular transfer function cutoff frequency (MTF) and the predicted visual acuity within the 100% (PVA), 20% (PVA20) and 9% contrast levels (PVA9) that were evaluated at baseline, 1st week, 1 and 6 months after surgery. Results: 118 eyes were included: 40 underwent LASIK, 43 FS-LASIK and 35 PRK. The mean age was 30.6±4.6 years old and 56% were female. There was a significant impact concerning the type of procedure in the objective quality of vision analysis (Repeated measures ANOVA): the FS-LASIK group showed lower OSI values overtime [F(1,2)=4.566, p=0.012, OSI 0.83±0.53 (FS-LASIK) vs 0.87±0.47 (PRK) and 1.21±1.44 (LASIK)], higher MTF values [F(1,2)=6.569, p=0.002, MTF 40.17±8.33 vs 32.37±11.4 (PRK) and 30.26±10.28 (LASIK)], higher PVA 100% [F(1,2)=10.871, p<0.001], PVA 20% [F(1,2)=9.737, p<0.001] and PVA 9% [F(1,2)=6.335), p=0.003]. Conclusion: In our study, FS-LASIK showed an excellent optical performance through the HD AnalyzerTM technology, with significantly lower OSI and higher MTF, PVA100, PVA20 and PVA9 values. According to our results, this procedure seems to be superior to PRK and LASIK regarding visual quality objective parameters.

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. Patients were divided into three groups according to the data of multimodal ocular surface evaluation: (1) Group 1 if it was before Portugal lockdown decision (from August 2019 to March 2020); (2) Group 2 if it was after Portugal lockdown decision but without mask mandate (from April 2020 to October 2020); and (3) Group 3 if it was after Portugal lockdown but with mask mandate in health public highway (from November 2020 to April 2021). The following variables were analyzed: Lipid layer thickness, blink rate, Schirmer test, tear meniscus height, tear osmolarity, non-invasive break-up time, and loss area of the meibomian glands. RESULTS: The study included 548 eyes of 274 patients, aged 18 years to 89 years, with a mean age of 66.15 ± 13.40 years at the time of multimodal ocular surface evaluation. Compared to group 1: (1) Mean lipid layer thickness was better in group 2 (P = 0.001) and group 3 (P < 0.001); (2) Schirmer test was similar in group 2 (P = 0.576) and better in group 3 (P = 0.002); (3) Tear osmolarity and loss area of the meibomian glands were worse in group 2 (P = 0.031 and P < 0.001, respectively) and in group 3 (both with P < 0.001); (4) Blink rate and tear meniscus height were similar in group 2 (P = 0.821 and P = 0.370, respectively) and worse in group 3 (P < 0.001 and P = 0.038, respectively); and (5) Non-invasive break-up time was worse in group 2 (P = 0.030) and similar in group 3 (P = 0.263). CONCLUSION: Our study demonstrated that differences existed in tear film properties comparing data from the pre- and post-pandemic of the COVID-19 era.

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). Still, the registry has a lower-than-expected adoption rate, with only 4 centers across Portugal actively enrolling patients. This highlights a strong need to understand factors that may be hindering the registry's nationwide adoption. The purpose of this manuscript is to analyze challenges, facilitators and barriers to the adoption and use of the IRD-PT registry, and to discuss avenues for improvement, focusing on keeping the registry sustainable in the long run. We believe that this exercise may help other rare disease registries to improve user adherence and engagement, ultimately contributing to develop more sustainable and successful registries in the field.

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. However, the amount of AI-featured research on Inherited Retinal Diseases (IRDs) is currently limited. Thus, this study aims to examine artificial intelligence approaches used in managing Inherited Retinal Disorders, from diagnosis to treatment. A total of 20,906 articles were identified using the Natural Language Processing (NLP) method from the IEEE Xplore, Springer, Elsevier, MDPI, and PubMed databases, and papers submitted from 2010 to 30 October 2021 are included in this systematic review. The resultant study demonstrates the AI approaches utilized on images from different IRD patient categories and the most utilized AI architectures and models with their imaging modalities, identifying the main benefits and challenges of using such methods.

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. METHODS: Patients who underwent Artiflex Myopia or Artiflex Toric iris-fixed pIOL implantation for the treatment of myopia or astigmatism between 2003 and 2011 were included. Refractive stability, refractive predictability, safety, efficacy, and cumulative probability of success were evaluated at 5 years, 10 years, and 15 years of follow-up. RESULTS: 5-year, 10-year, and 15-year follow-ups were completed by 199 of 217 (91.7%), 187 of 217 (86.2%), and 43 of 45 (95.6%) eyes implanted with pIOLs, respectively. The mean spherical equivalent was -8.36 ± 2.75 diopters (D), -0.11 ± 0.31 D, -0.33 ± 0.62 D, and -0.80 ± 1.32 D preoperatively and after 5 years, 10 years, and 15 years after surgery. At 5 years, 10 years, and 15 years after surgery, 100%, 95.6%, and 81.6% were within ±1.00 D. The safety and efficacy indexes were 1.07 and 1.06 at 5 years, 1.04 and 0.99 at 10 years, and 1.05 and 1.00 at 15 years of follow-up, respectively. Kaplan-Meier analysis showed survival rates of 97% at 5 years, 73% at 10 years, and 43% at 15 years of follow-up. CONCLUSIONS: Long-term results demonstrated that the implantation of Artiflex pIOLs was a stable, predictable, and effective procedure at 5 years, 10 years, and 15 years of follow-up. Annual follow-up visits to evaluate endothelial cell density and anterior chamber depth decrease, to alert patients to this need in the preoperative evaluation, is recommended.

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. METHODS: A four-database search (Pubmed, ISI Web of Science, Cochrane, and Scopus) was performed from inception to March 2021 using the following MeSH terms: ("Refractive Surgical Procedures" OR "Keratomileusis, Laser In Situ" OR "Photorefractive Keratectomy" OR "Lens Implantation, Intraocular") AND ("Esotropia" OR "Accommodative Esotropia" OR "Refractive Esotropia" OR "Accommodative Strabismus"). No meta-analysis was performed due to studies' heterogeneity. RESULTS: Twenty-eight studies including 22 case series enrolling 378 patients and 6 case reports enrolling 8 patients were selected among 185 original abstracts. In the case series, a total of 378 patients (726 eyes) were recruited with an age range of 8-52 years. All studies reported mean follow-up periods of at least 12 months. Photorefractive keratectomy was performed in 7 studies, laser-assisted in situ keratomileusis in 9 studies, laser-assisted sub-epithelial keratectomy was reported in 1 study, and 3 studies implanted intraocular lenses, including iris-fixated and collamer. Considering the adult patients with a preoperative corrected esodeviation ≤10 prism diopters (PD) (n = 129), all but 5 (3.9%) presented orthophoria or ≤10PD after refractive surgery. All children but 4 (4.5%) ended up with an esodeviation ≤10PD after surgery with those exceptions being in the range of 11-15PD. Six case reports were included in this review, comprising a total of 8 patients (16 eyes) with an age range of 7-34 years and a follow-up range of 4-48 months. Six case reports were included in this review, comprising a total of 8 patients (16 eyes) with an age range of 7-34 years and a follow-up range of 4-48 months. CONCLUSION: Evidence produced so far points out that refractive surgery may be an alternative for spectacle correction for adults with AET ≤10PD. There is not enough evidence to recommend its use for patients under 18 years of age. The safety and predictability of these procedures for this purpose remains unclear as the selection criteria used for these patients are much different than the usual indications and there are no studies with long-term follow-up.

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). Optical coherence tomography (OCT) imaging was performed with enhanced depth imaging protocol. Choroidal vascularity index (CVI) was calculated in a 5 mm scan centered in the fovea. RESULTS: CVI decreased with age (p < 0.001) but was not influenced by axial length. A multivariate analysis adjusting for age confirmed a significant difference in CVI between DR eyes that had previous treatments (intravitreal injections and/or photocoagulation) compared to control eyes (p = 0.013) and to DR eyes that never required treatment (p = 0.002). There was no significant difference between non-DR diabetic patients and normal controls. Considering the group of DR patients that had previous treatments, in eyes without optic media opacification, BCVA correlated with CVI (r = - 0.362, p < 0.001), whereas full retina thickness and individual retinal layer thickness did not (p > 0.066). CONCLUSIONS: A reduction in CVI was observed in patients with a more advanced stage of DR. In treated DR patients with stable disease, choroidal biomarkers correlated with best-corrected visual acuity whereas retinal biomarkers did not. TRIAL REGISTRATION: N/A.

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. Mean age was similar between groups (P = 0.979). For hereditary transthyretin amyloidosis patients, on average, in all sectors analyzed (in the full 5 mm-width image [G] and also in 1-mm-width central [C], nasal [N], and temporal [T] sectors), there was a higher stromal area, a lower choroidal thickness, and a lower choroidal vascularity index, compared with the control group. The linear mixed models revealed no differences according to the systemic treatment groups. CONCLUSION: Hereditary transthyretin amyloidosis patients showed statistically significant differences in choroidal characteristics, compared with eyes without pathology. These age-related and statistically significant changes compared with the healthy eyes may help in the future to better monitor the systemic hereditary transthyretin amyloidosis disease and complement other systemic evaluations, including on clinical trials to analyze more objectively, the results of new therapies.

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. Genetic testing was clinically oriented, and variants were classified according to the American College of Medical Genetics and Genomics. Only class IV or V variants were considered disease-causing. Clinical/demographic, functional, and imaging features were compared between genetically unsolved (G1) and genetically solved (G2) patients. RESULTS: A total of 175 patients (146 families) were included: 68 patients (59 families) in G1 and 107 patients (87 families) in G2. First symptoms <25 years, consanguinity, evidence for a particular inheritance pattern, and the absence of indicators for phenocopies were significantly more prevalent in G2. No significant differences were observed on best-corrected visual acuity. The visual field index and mean central retinal layer thickness were significantly higher in G1. The frequency of atypical features on multimodal imaging did not differ between groups. CONCLUSION: Individual clinical/demographic functional testing and multimodal imaging features should be considered when counseling patients about the probability of identifying disease-causing variants.

Ahmed valve for secondary glaucoma in patients with hereditary transthyretin amyloidosis.

OBJECTIVE: To evaluate the surgical outcomes of patients with hereditary transthyretin amyloidosis (TTR-FAP) who underwent Ahmed glaucoma valve (AGV) implantation. METHODS: A retrospective cohort study was performed on patients with a diagnosis of TTR-FAP secondary glaucoma, who underwent AGV implantation in our department, between November 2010 and July 2019. The cumulative probability of treatment success was measured with Kaplan-Meier survival analysis. The primary outcome was success, defined as intraocular pressure (IOP) ≥ 6 mmHg and ≤21 mmHg with or without medication, with no need for further glaucoma surgery and without loss of light perception at last follow-up. Secondary outcomes were postoperative IOP, number of IOP-lowering medications, and rates of complications. RESULTS: The study included 114 eyes of 87 patients. The mean follow-up duration was 3.81 ± 2.11 years (y) [range, 1.00-8.28 y]. Compared to the preoperative values, the mean IOP was reduced from 28.20 ± 7.01 to 12.87 ± 3.76 mmHg at the final visit (p < 0.001), with a reduction in the number of medications from 3.89 ± 0.66 to 1.86 ± 1.43 (p < 0.001). Early and late postoperative complications occurred in 20 (17.09%) and 9 (7.89%) eyes, respectively. Kaplan-Meier analysis indicated probabilities of success of 0.98 at 1 y, 0.97 at 2 y, 0.95 at 3 y, 0.89 at 4 y, 0.77 at 5 y and 0.72 at 6 y. The linear correlation analysis showed a correlation between some characteristics of the natural history of TTR-FAP patients and AGV implantation success. CONCLUSION: Although glaucoma in TTR-FAP patients is very difficult to manage, AGV implantation is an effective and relatively safe procedure.

RETINAL EMBOLIZATION AFTER CAROTID ECHO DOPPLER: A CASE REPORT.

PURPOSE: To report a case of symptomatic multiple retinal emboli during a carotid Doppler ultrasonography (CDU) procedure. METHODS: Case report documented with clinical records, fundus photography, optical coherence tomography angiography of the retina, and computed tomography angiography of the supraaortic vessels. RESULTS: A 60-year-old male patient presented to the emergency department with sudden vision loss in the left eye and pain in the left upper eyelid noticed during a CDU procedure. On the left eye, the best-corrected visual acuity was 20/200, and fundus observation revealed retinal arteriolar attenuation, retinal whitening with cherry point, and multiple intraarterial emboli in all arcades of the central retinal artery. Computed tomography angiography of the supraaortic vessels revealed an absence of filling throughout the cervical, petrous, and cavernous segment of the left internal carotid artery, resuming only in the ophthalmic segment and an important stenosis of the left external carotid artery. He had no indication to be submitted to left carotid endarterectomy and began ocular massage and oral anticoagulant. Four months later, ptosis was no longer present, best-corrected visual acuity improved to 20/20 with a residual scotoma, and emboli disappeared on fundus photography. CONCLUSION: Embolic occlusion of retinal arteries may be an extremely rare but serious complication associated with CDU, and patients and clinicians should be aware of it.

Sistema Web para la gestión de los programas de maestrías del Instituto Pedro Kourí / Web System for the Management of Master's Degree Programs at Pedro Kouri Institute

Introducción: La automatización de la información en las instituciones cubanas es una necesidad tecnológica en constante evolución que requiere de un sistema integral de automatización. Objetivo: Implementar un sistema web para la gestión de la información relacionada con los programas de maestrías del Instituto Pedro Kourí. Material y Métodos: Se realizó una investigación aplicada de desarrollo tecnológico y diseño no experimental, descriptivo y de corte transversal; el universo de estudio estuvo formado por 4 especialistas del departamento docente y para la recolección de la información se utilizó la entrevista no estructurada. La metodología de desarrollo de software seleccionada fue Proceso Unificado de Desarrollo y para el modelado del sistema Lenguaje Unificado de Modelado. Las herramientas de desarrollo empleadas fueron: Visual Paradigm for UML 6.4 Enterprise Edition, WampServer 2.0f, MySQL 5.1.30, Zend Studio 5.5.1 y Apache 2.2.11. Resultados y Discusión: Se especificó el modelado de las clases conceptuales y se concibieron los procesos a informatizar. Se realizaron los diagramas de casos de uso del sistema, de secuencia y de clases de diseño. Se automatizó la gestión de información de manera integrada, lo que permitirá obtener y analizar reportes estadísticos y facilitará llevar a cabo un conjunto de acciones encaminadas a mejorar la calidad de los programas de maestrías del instituto. Conclusiones: El Sistema garantizará la automatización de los procesos académicos, beneficiando tanto a alumnos, como a profesores y especialistas del departamento docente de la entidad(AU)

Introduction: The automation of information in Cuban institutions is a constantly evolving technological need that requires a comprehensive automation system. Objective: To implement a web system for the management of information related to the master's programs of the Pedro Kourí"Institute. Material and Methods: An applied research of technological development and non-experimental, descriptive and cross-sectional design was carried out; the study universe was made up of four specialists from the teaching department and the unstructured interview was used to collect the information. The selected software development methodology was Unified Development Process and the Unified Modeling Language for modeling the system. As development tools: Visual Paradigm for UML 6.4 Enterprise Edition, WampServer 2.0f, MySQL 5.1.30, Zend Studio 5.5.1 and Apache 2.2.11. Results and Discussion: The modeling of the conceptual classes and the processes to be computerized were conceived and specified, as well as the diagrams of use cases of the system, sequence and design classes were made. Information management was automated in an integrated manner, which will allow obtaining and analyzing statistical reports and will facilitate carrying out a set of actions aimed at improving the quality of the institute's master's programs. Conclusions: The System will guarantee the automation of the academic processes, benefiting students, teachers and specialists of the entity's teaching department(AU)