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Ana Marta,1,2 André Ferreira,1,3,4 Inês Couto,1 Miguel Mesquita Neves,1 Miguel Gomes,1 Luis Oliveira,1 Celia Azevedo Soares,5– 8 Maria João Menéres,1,2 Carolina Lemos,2,8 João Melo Beirão1,2 1Department of Ophthalmology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal; 2Instituto Ciências Biomédicas Abel Salazar (ICBAS), Porto, Portugal; 3Department of Biomedicine - Unit of Anatomy, Faculty of Medicine of University of Porto, Porto, Portugal; 4Centre for Health Technology and Services Research, Health Research Network (CINTESIS@RISE), Faculty of Medicine of the University of Porto, Porto, Portugal; 5Medical Genetics Department, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal; 6Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal; 7Medical Science Department, Universidade de Aveiro, Aveiro, Portugal; 8i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, PortugalCorrespondence: Ana Marta, Centro Hospitalar Universitário de Santo António, Unidade Saúde Local de Santo António, EPE (ULSSA), Largo do Prof. Abel Salazar, Porto, 4099-001, Portugal, Email analuisamarta2@gmail.comPurpose: Inherited retinal diseases (IRDs) are a group of degenerative disorders of the retina, that can be potentially associated with changes in the anterior segment, but their prevalence and impact are not known. Exploring these concomitant ophthalmologic changes with biomechanical assessment may help identify other non-retina causes of vision loss in these patients, such as corneal ectasia or susceptibility to glaucoma. This study aimed to measure and compare corneal biomechanics in patients with and without IRDs.Methods: A total of 77 patients (154 eyes) with IRD were recruited as the study group. The control group consisted of 77 healthy adults (154 eyes) with matched age and sphere equivalents. All participants underwent a comprehensive assessment including corneal tomography (Pentacam®) and biomechanical assessment (Corvis ST®). A total of 4 second-generation biomechanical parameters and 3 indexes were collected: Ambrosio Relational Thickness (ARTh), Deflection Amplitude Ratio Max (DARM), Integrated Radius (IR) and Stiffness Parameter at Applanation (SP-A1), the final deviation value D of the Belin/Ambrosio Enhanced Ectasia Display (BAD-D), Corvis Biomechanical Index (CBI) and Tomographic Biomechanical Index (TBI).Results: For IRD patients, there was a higher DARM (p < 0.001), lower ARTh (p < 0.001), higher CBI (p < 0.001), higher TBI (p< 0.001), and higher BAD-D (p < 0.001) compared to the control group. Regarding discrimination of healthy subjects and IRD patients, ARTh was the most sensitive parameter.Conclusion: The results showed that IRD patients tend to have softer corneal behaviour, compared to eyes without pathology, which may predispose patients to corneal ectasia or glaucoma development. ARTh could be used to screen IRD patients if a non-retina cause of vision loss is suspected.Keywords: IRD, corneal biomechanics, corneal tomography

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., (© 2024. The Author(s).)

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., (© 2023 by the American Academy of Ophthalmology.)

Introduction - Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symptoms of exercise intolerance, myalgia, and cramps, which improve after a few minutes of rest, are frequently unrecognized in affected children. When there is clinical suspicion, the initial approach with a forearm exercise test has diagnostic value by detecting low post-exercise plasma lactate-to-ammonia ratio values. The diagnostic algorithm is followed by genetic testing if the results suggest myophosphorylase deficiency. Methods - This was a retrospective observational study conducted based on reviewing medical records of patients with GSDV in a tertiary hospital. We assessed demographic variables, including the timing of onset and diagnosis, relevant clinical characteristics, and whether genetic testing was performed, including its results. Results/Case Report - Our goal was to review the GSDV cases in our center to assess our cohort's diagnostic timing and clinical and genetic characteristics. We identified 28 patients from 24 families, three with consanguinity. The mean age at the time of the study was 43 years. While most (26/28; 93%) recalled their first symptoms in childhood/adolescence, only 25% (7/28) were diagnosed then. All patients had exercise intolerance and CK elevation, while about half reported the second wind phenomenon. Genetic testing was performed in 22 patients, revealing biallelic PYGM variants (9 homozygous, 13 compound heterozygous) as the most common (p.R50*). Conclusion - GSDV is rare and presents in the pediatric age, with subtle manifestations often underestimated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

In phenylketonuria (PKU), high phenylalanine (Phe) levels hamper neurodevelopment impairing executive function later in life. While the second has been more studied, fewer data exist on predictors of PKU patients' development in specific populations. To contribute to the field, we performed a retrospective analysis of predictors of neurodevelopment in PKU patients in a Portuguese cohort. We analyzed the retrospective data on the metabolic control of 89 patients, as their health and familial features. Griffith's Mental Development Scale performance at age 6 (GMDS6) was used to assess neurodevelopment. Our cohort included 14 GMDS6 low and 75 GMDS6 high patients. In a multivariate analysis, the better predictors of neurodevelopment were the metabolic control at age 3 and year of birth (n = 87, β 0  = -121, β 1  = -1.77, β 2  = 0.06, LRchi2(2) = 13.61, Prob > chi2 = 0.001, Pseudo R2 = 0.1773). With this model, it was possible to define a safety cut-off of 7.8 mg/dL for the Phe level at age 3 (sensitivity = 72.6%, specificity = 78.6%), confirming the safety of the cut-off of 6 mg/dL already used in the clinical practice. Our study supports the relevance of metabolic control to predict the neurodevelopment of PKU patients, in the historical context of the disease management., (© 2023 Wiley Periodicals LLC.)