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10. Human Immunodeficiency Virus Type 1 and Tuberculosis Coinfection in Multinational, Resource-limited Settings: Increased Neurological Dysfunction

Author

Robertson, Kevin R, Oladeji, Bibilola, Jiang, Hongyu, Kumwenda, Johnstone, Supparatpinyo, Khuanchai, Campbell, Thomas B, Hakim, James, Tripathy, Srikanth, Hosseinipour, Mina C, Marra, Christina M, Kumarasamy, Nagalingeswaran, Evans, Scott, Vecchio, Alyssa, La Rosa, Alberto, Santos, Breno, Silva, Marcus T, Montano, Sylvia, Kanyama, Cecilia, Firnhaber, Cindy, Price, Richard, Marcus, Cheryl, Berzins, Baida, Masih, Reena, Lalloo, Umesh, Sanne, Ian, Yosief, Sarah, Walawander, Ann, Nair, Aspara, Sacktor, Ned, Hall, Colin, and Group, 5199 Study Team and the AIDS Clinical Trials

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, Neurosciences, Infectious Diseases, Lung, Tuberculosis, Emerging Infectious Diseases, Rare Diseases, HIV/AIDS, Clinical Research, Infection, Good Health and Well Being, Adult, Cognitive Dysfunction, Coinfection, Female, HIV Infections, HIV-1, Health Resources, Humans, Internationality, Longitudinal Studies, Male, Motor Skills, Nervous System Diseases, Neuropsychological Tests, Prospective Studies, Quality of Life, HIV, tuberculosis, resource-limited, cognitive impairment, neuropsychological functioning, Study Team, and the AIDS Clinical Trials Group, Biological Sciences, Medical and Health Sciences, Microbiology, Clinical sciences
Abstract

BackgroundAIDS Clinical Trial Group 5199 compared neurological and neuropsychological test performance of human immunodeficiency virus type 1 (HIV-1)-infected participants in resource-limited settings treated with 3 World Health Organization-recommended antiretroviral (ART) regimens. We investigated the impact of tuberculosis (TB) on neurological and neuropsychological outcomes.MethodsStandardized neurological and neuropsychological examinations were administered every 24 weeks. Generalized estimating equation models assessed the association between TB and neurological/neuropsychological performance.ResultsCharacteristics of the 860 participants at baseline were as follows: 53% female, 49% African; median age, 34 years; CD4 count, 173 cells/μL; and plasma HIV-1 RNA, 5.0 log copies/mL. At baseline, there were 36 cases of pulmonary, 9 cases of extrapulmonary, and 1 case of central nervous system (CNS) TB. Over the 192 weeks of follow-up, there were 55 observations of pulmonary TB in 52 persons, 26 observations of extrapulmonary TB in 25 persons, and 3 observations of CNS TB in 2 persons. Prevalence of TB decreased with ART initiation and follow-up. Those with TB coinfection had significantly poorer performance on grooved pegboard (P < .001) and fingertapping nondominant hand (P < .01). TB was associated with diffuse CNS disease (P < .05). Furthermore, those with TB had 9.27 times (P < .001) higher odds of reporting decreased quality of life, and had 8.02 times (P = .0005) higher odds of loss of productivity.ConclusionsTB coinfection was associated with poorer neuropsychological functioning, particularly the fine motor skills, and had a substantial impact on functional ability and quality of life.Clinical trials registrationNCT00096824.

Published
2019

15. Tear Cytokines as Predictive Biomarkers of Success in Contact Lens Discomfort Management.

Author

Calderón-García, Andrés Ángel, López-de la Rosa, Alberto, Valencia-Nieto, Laura, García-Vázquez, Carmen, Arroyo-del-Arroyo, Cristina, López-Miguel, Alberto, Blanco-Vázquez, Marta, Novo-Diez, Andrea, Fernández, Itziar, Enríquez de Salamanca, Amalia, and González-García, María Jesús

Abstract

PurposeMethodsResultsConclusionsTo analyze changes in tear levels of inflammatory mediators in symptomatic contact lens (CL) wearers after refitting with daily disposable CLs and to identify potential biomarkers of success in CL discomfort (CLD) management.Symptomatic CL wearers (CLDEQ-8 ≥ 12) were refitted (V1) with daily disposable CLs (Delefilcon A). After one month (V2), participants were classified into the post-fitting non-symptomatic (CLDEQ <12) and symptomatic (CLDEQ ≥12) groups. At each visit, the participants were clinically evaluated, tears were collected, and 20 inflammatory mediators and substance P (SP) were measured using multiplex immunobead analysis and ELISA, respectively. The detection rates and concentrations were compared between visits and groups, and logistic regression models were performed.Forty-three subjects (32 women/11 men; mean age: 23.2 ± 4.9 years) were enrolled. The IL-1β and IL-9 detection rates were higher at V2 (p ≤ 0.044). The detection rates of IL-1β, IL-9, MIP-1α/CCL3, and MMP-9 at V1 (p ≤ 0.045) and IL-17A at V2 (p ≤ 0.014) were higher in the post-fitting symptomatic group. The tear IL-9 concentration was increased at V2 (p = 0.018). The tear concentrations of fractalkine/CX3CL1, IL-2, IL-6, IL-10, MCP-3/CCL7, MIP-1β, NGF, RANTES/CCL5, and TNF-α were higher in the post-fitting symptomatic group (p ≤ 0.044). Additionally, levels of fractalkine/CX3CL1, IL-2, IL-6, IL-10, RANTES/CCL5, and TNF-α at V1 were significantly associated with the post-fitting grouping (p ≤ 0.044).Low tear concentrations of specific inflammatory mediators may be used as a predictive biomarker of success for refitting symptomatic CL wearers with daily disposable CLs. However, complementary treatments might be required for symptomatic CL wearers with higher levels of these inflammatory molecules. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Gene expression changes in conjunctival cells associated with contact lens wear and discomfort

Author

Calderón-García, Andrés Ángel, primary, Valencia-Nieto, Laura, additional, Valencia-Sandonis, Cristina, additional, López-de la Rosa, Alberto, additional, Blanco-Vazquez, Marta, additional, Fernández, Itziar, additional, García-Vázquez, Carmen, additional, Arroyo-del Arroyo, Cristina, additional, González-García, María J., additional, and Enríquez-de-Salamanca, Amalia, additional

Published
2023
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18. Concurrent Anemia and Elevated C-Reactive Protein Predicts HIV Clinical Treatment Failure, Including Tuberculosis, After Antiretroviral Therapy Initiation

Author

Shivakoti, Rupak, Yang, Wei-Teng, Gupte, Nikhil, Berendes, Sima, La Rosa, Alberto, Cardoso, Sandra W, Mwelase, Noluthando, Kanyama, Cecilia, Pillay, Sandy, Samaneka, Wadzanai, Riviere, Cynthia, Sugandhavesa, Patcharaphan, Santos, Brento, Poongulali, Selvamuthu, Tripathy, Srikanth, Bollinger, Robert C, Currier, Judith S, Tang, Alice M, Semba, Richard D, Christian, Parul, Campbell, Thomas B, and Gupta, Amita

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, Clinical Sciences, HIV/AIDS, Prevention, Hematology, Infectious Diseases, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Infection, Good Health and Well Being, Adult, Aged, Anemia, Anti-Retroviral Agents, C-Reactive Protein, Case-Control Studies, Female, HIV Infections, Humans, Incidence, Male, Middle Aged, Prospective Studies, Risk Factors, Treatment Failure, Young Adult, HIV, anemia, inflammation, CRP, antiretroviral therapy, New Work Concept Sheet 319 and The Prospective Evaluation of Antiretrovirals in Resource-Limited Settings Study Team, Biological Sciences, Medical and Health Sciences, Microbiology, Clinical sciences
Abstract

BackgroundAnemia is a known risk factor for clinical failure following antiretroviral therapy (ART). Notably, anemia and inflammation are interrelated, and recent studies have associated elevated C-reactive protein (CRP), an inflammation marker, with adverse human immunodeficiency virus (HIV) treatment outcomes, yet their joint effect is not known. The objective of this study was to assess prevalence and risk factors of anemia in HIV infection and to determine whether anemia and elevated CRP jointly predict clinical failure post-ART.MethodsA case-cohort study (N = 470 [236 cases, 234 controls]) was nested within a multinational randomized trial of ART efficacy (Prospective Evaluation of Antiretrovirals in Resource Limited Settings [PEARLS]). Cases were incident World Health Organization stage 3, 4, or death by 96 weeks of ART treatment (clinical failure). Multivariable logistic regression was used to determine risk factors for pre-ART (baseline) anemia (females: hemoglobin

Published
2015

20. Reliability and agreement of subjective and objective non‐invasive break‐up time measurements in contact lens wearers.

Author

Valencia‐Nieto, Laura, López‐de la Rosa, Alberto, González‐García, María J., and López‐Miguel, Alberto

Abstract

Purpose: To assess the reliability and agreement of non‐invasive break‐up time (NIBUT) in symptomatic and asymptomatic contact lens (CL) wearers using automatic objective and conventional subjective techniques. Methods: In this prospective cross‐sectional study, soft CL wearers, classified into symptomatic and asymptomatic based on the Contact Lens Dry Eye Questionnaire‐8, underwent NIBUT assessment with the CL in situ. The CA‐800 Corneal Analyzer and the EasyTear® VIEW+ Tearscope were used for objective and subjective evaluation, respectively. The within‐subject repeatability and intraclass correlation coefficient (ICC) were calculated. The agreement between the devices was compared using the Bland–Altman method. Results: A total of 141 CL wearers (51 male and 90 female) with a mean age of 33.6 (SD = 12.2) years were included. The repeatability and ICC values obtained with the CA‐800 device when measuring NIBUT were 5.4 s and 58.6% across the whole sample, 4.2 s and 48.8% for the asymptomatic group and 7.1 s and 68.4% for the symptomatic group. When using the subjective method (EasyTear®), the respective repeatability and ICC values were 7.3 s and 32.7% for the whole sample, 6.5 s and 30.4% for the asymptomatic group and 8.6 s and 35.9% for the symptomatic group. The CA‐800 device provided significantly (p < 0.001) shorter NIBUT values compared with EasyTear® for the whole sample (3.3 [2.9] vs. 8.1 [3.4] s), the asymptomatic (3.3 [3.0] vs. 7.7 [3.6] s) and the symptomatic (3.8 [2.9] vs. 8.6 [3.0] s) groups. Conclusion: Objective (CA‐800) NIBUT assessment provides more reliable measurements than the conventional subjective technique using the EasyTear® device. However, CL practitioners should also be aware that the objective method indicates shorter NIBUT values. Symptomatic CL wearers may also need a higher number of NIBUT measurements to obtain reliable estimations. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Logro de control metabólico temprano en adultos con diabetes mellitus tipo 2 en Perú

Author

Rocca Nación, Jesús, primary, Sanchez, Celinda, additional, Bardales, Darío, additional, González Alfaro, Juan, additional, Torres Samamé, Liliana, additional, Burga, José Luis, additional, Olmos, Cecil, additional, Torres-Aparcana, Harold, additional, Barreda, Luis, additional, Delgado, Cesar, additional, Garcia, Alfredo, additional, Noriega-Ruiz, Víctor, additional, Antezana, Augusto, additional, Orengo, Juan C., additional, La Rosa, Alberto M., additional, Pinzón, Adolfo, additional, and Gonzalez, Claudio, additional

Published
2023
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31. Comparison of the Outcomes of Individuals With Medically Attended Influenza A and B Virus Infections Enrolled in 2 International Cohort Studies Over a 6-Year Period: 2009–2015

Author

Dwyer, Dominic E, Lynfield, Ruth, Losso, Marcelo H, Davey, Richard T, Cozzi-Lepri, Alessandro, Wentworth, Deborah, Uyeki, Timothy M, Gordin, Fred, Angus, Brian, Qvist, Tavs, Emery, Sean, Lundgren, Jens, Neaton, James D, Aagaard, Bitten, Borges, Álvaro H D, Cozzi-Lepri, Alessandro, Eid, Marius, Jansson, Per O, Jeppesen, Marianne, Joensen, Zillah Maria, Pedersen, Ruth Kjærgaard, Lundgren, Jens, Nielsen, Birgit Riis, Pearson, Mary, Peters, Lars, Qvist, Tavs, Angus, Brian, Babiker, Abdel, Bennett, Rachel, Braimah, Nafisah, Collaco-Moraes, Yolanda, Cursley, Adam, Hudson, Fleur, Pett, Sarah, Russell, Charlotte, Webb, Helen, Carey, Dianne, Courtney-Rodgers, David, Emery, Sean, Shaw, Pamela, Gordin, Fred, Sanchez, Adriana, Standridge, Barbara, Vjecha, Michael, Brekke, Kate, Campbell, Megan, Denning, Eileen, DuChene, Alain, Engen, Nicole, George, Michelle, Harrison, Merrie, Neaton, James D, Nelson, Ray, Quan, Siu-Fun, Schultz, Terri, Wentworth, Deborah, Baxter, John, Brown, Shawn, Hoover, Marie, Beigel, John, Davey, Richard T, Jr., Dewar, Robin, Gover, Erin, McConnell, Rose, Metcalf, Julia, Natarajan, Ven, Rehman, Tauseef, Voell, Jocelyn, Dwyer, Dominic E, Kok, Jen, Uyeki, Timothy M, Munroe, David, Aguila, Damian, Alzogaray, Maria Fernanda, Ballesteros, Maria Fernanda, Barcan, Laura, Barcelona, Laura, Belloso, Waldo, Berdiñas, Veronica, Bonvehi, Pablo, Caeiro, Juan Pablo, Cisneros, Veronica, Crinejo, Ana, David, Daniel, Doldan, Luz, Ebenrstejin, Juan, Lipari, Flavio, Lopardo, Ana, Lopardo, Gustavo, Losso, Marcelo, Lucchetti, Pablo, Lupo, Sergio, Macias, Laura Moreno, de Tesco, Alejandra Moricz, Mykietiuk, Analia, Nannini, Estaban, Nieto, Gabriel, Nieto, Laura, Peroni, Luciana, Retta, Ignacio, Rodriguez, Patricia, Sanchez, Marisa, Sanchez, Pablo, de Paz Sierra, Mariana, Tavella, Silvina, Temporiti, Elena, Trape, Liliana, Vieni, Ines, Warley, Eduardo, Yahni, Diego, Zarate, Abel Humberto, Avihingsanon, Anchalee, Charoentonpuban, Kanlaya, Chetchotisakd, Ploenchan, Kaewon, Peeraporn, Laopraynak, Naphassanant, Manosuthi, Weerawat, Pussadee, Kanitta, Putcharoen, Opass, Ruxrungtham, Kiat, Suwanpimonkul, Gompol, Ubolyam, Sasiwimol, Arduino, Roberto, Atkinson, Barbara, Aulicino, Taryn M, Baker, Jason V, Bardascino, Cindy, Bass, Caitlin, Baxter, John D, Beilke, Mark, Bentley, Beverly D, Lee Bertrand, Mary, Brown, Ann B, Carbonneau, June, Cindrich, Richard, Coburn, Patty, Cohen, Calvin J, Clark, Linda, Cummins, Shirley, Dassow, Paul, DeHovitz, Jack A, Dharan, Nila J, Faber, Leslie, Farrough, Marti, Freiberg, Matthew, Gardner, Edward, Jo Garrett, Kimberly, Geisler, Christiane, Glesby, Marshall, Green, Julia, Grenade, Joanne, Gunderson, Edie, Gunter, John, Ham, Kirsis, Holman, Susan, Hughes, Valery, Hurt, Christopher, Johnson, Mary, Koerbel, Glory, Koletar, Susan, Lan, Audrey, MacArthur, Rodger, Marcus, Cheryl, Markowitz, Norm, Martinez, Maria Laura, McLaughlin, Karen, Nahra, Raquel, Nettles, Mary Jane, Nixon, Daniel, Novak, Richard, Nuffer, Kathleen, Olivet, Hannah B, Omotosho, Bola, Paez, Armando P, Paez-Quinde, Marta, Parker, Sonija, Patil, Namrata, Polenakovik, Hari, Powell, Sandra, Prosser, Rachel A, Reilly, Nancy A, Riska, Paul F, Rizza, Stacey, Schooley, Robert, Schwarber, Marla, Scott, James, Simon, Gary L, Sivoravong, Jon, Skiest, Daniel J, Solorzano, Clemencia, Sondengam, Rita, Swanson, Nicole, Tedaldi, Ellen, Temesgen, Zelalem, Thomas, Doug, Thron, Bill, Traverse, Colleen, Uddin, David E, Uslan, Daniel Z, Vasco, Marina, Vaughan, William M, Vecino, Isabel, Wade, Barbara, Walker, Catrice, Watson, Kathy, Watson, Vicky, Wohl, David, Wolfe, Cameron R, Andry, Leslie, Bielen, Mireille, Clumeck, Nathan, Florence, Eric, Kabeya, Kabamba, Sagaer, Jolanthe, Weckx, Jozef, Anagnostou, Olga, Antoniadou, Anastasia, Daikos, George, Gioukari, Vicky, Kalomenidis, Ioannis, Kantzanou, Maria, Koratzanis, Georgios, Koulouris, Nikolaos, Maltezos, Efstratios, Metallidis, Symeon, Polixronopoulos, Vlassis, Sambatakou, Helen, Skoutelis, Athanasios, Touloumi, Giota, Vasilopoulos, Nikolaos, Bloch, Mark, Cunningham, Nicky, Dwyer, Dominic E, Edwards, Sian, Elliott, Julian, Garlick, Jill, Habel, Philip, Kilkenny, Fiona, Lau, Helen, MacRae, Karen, McBride, John, Moore, Richard, Prone, Isabel, Ram, Ristila, Richmond, Sue, Roth, Norm, Meng Soo, Tuck, Jo-Anne, Thompson, Vincent, Trina, Vlakahis, Emanuel, Woolstencroft, Rachel, Chadwick, David, Clarke, Tristan, Democratis, Jane, Dockrell, David, Heyderman, Robert, Jeffs, Ben, Kutter, Stefan, Llewelyn, Martin, Minton, Jane, Newport, Melanie, Price, Ashley, Benites, Carlos, Castillo, Raul, Chinchay, Romina, Cornelio, Eva, Guevara, Maria, Gutierrez, Luis, Hidalgo, Jose, La Rosa, Alberto, Pinedo, Yvett, Saenz, Maria, Vega, Juan, Baadegaard, Bente, Bach, Karen, Collins, Philippa, Gerstoft, Jan, Hergens, Lene, Jensen, Lene Pors, Joensen, Zillah Maria, Kronborg, Gitte, Loftheim, Iben Rose, Nielsen, Henrik, Oestergaard, Lars, Pedersen, Court, Stauning Pedersen, Jens Aage, Yehdego, Yordanos, Bergmann, Frank, Boesecke, Christoph, Bogner, Johannes R, Brockmeyer, Norbert, Czaja-Harder, Christine, Draenert, Rika, Fätkenheuer, Gerd, Klinker, Hartwig, Kümmerle, Tim, Lehmann, Clara, Müller, Vera, Plettenberg, Andreas, Rockstroh, Jürgen, Schlabe, Stefan, E Schmidt, Wolfgang, Schürmann, Dirk, Schüttfort, Gundolf, Seybold, Ulrich, Stephan, Christoph, Stoehr, Albrecht, Tillmann, Klaus, Wiebecke, Susanne, Wolf, Timo, Arribas, Jose, Carbone, Javier, Fernández Cruz, Eduardo, Dalmau, David, Estrada, Vincente, Herrero, Patricia, Knobel, Hernando, López, Paco, Montejano, Rocío, Sans Moreno, José, Ramón Paño, José, Portas, Begoña, Rodrigo, Maria, Romero, Pilar, Sánchez-Sendín, Domingo, Soriano, Vincente, Bakowska, Elzbieta, Horban, Andrzej Jerzy, Knysz, Brygida, Kowalska, Karolina Pyziak, Zubkiewicz-Zarebska, Anna, Kase, Kerstin, Mülle, Helen, Zilmer, Kai, Allendes, Gladys, Flores, Jimena, Northland, Rebeka, Perez, Carlos, Velasco, Isabel, Wolff, Marcelo, Chu, Man-Yee, Wu, Tak-chiu, Burgmann, Heinz, Tobudic, Selma, Imahashi, Mayumi, Imamura, Junji, Iwatani, Yasumasa, Kogure, Ayumi, Nakahata, Masashi, Sugiura, Wataru, Yokomaku, Yoshiyuki, and Maagaard, Anne

Published
2017
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34. Pro-Inflammatory Alterations of Circulating Monocytes in Latent Tuberculosis Infection

Author

Feria, Manuel G, primary, Chang, Cecilia, additional, Ticona, Eduardo, additional, Moussa, Anissa, additional, Zhang, Bin, additional, Ballena, Isabel, additional, Azañero, Ruben, additional, Ticona, Cesar, additional, De Cecco, Carlo N, additional, Fichtenbaum, Carl J, additional, O’Donnell, Robert E, additional, La Rosa, Alberto, additional, Sanchez, Jorge, additional, Andorf, Sandra, additional, Atehortua, Laura, additional, Katz, Jonathan D, additional, Chougnet, Claire A, additional, Deepe, George S, additional, and Huaman, Moises A, additional

Published
2022
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36. Concurrent Anemia and Elevated C-Reative Protein Predicts HIV Clinical Treatment Failure, Including Tuberculosis, After Antiretroviral Therapy Initiation

Author

New Work Concept Sheet 319 and The Prospective Evaluation of Antiretrovirals in Resource-Limited Settings Study Team, Shivakoti, Rupak, Yang, Wei-Teng, Gupte, Nikhil, Berendes, Sima, La Rosa, Alberto, Cardoso, Sandra W., Mwelase, Noluthando, Kanyama, Cecilia, Pillay, Sandy, Samaneka, Wadzanai, Riviere, Cynthia, Sugandhavesa, Patcharaphan, Santos, Brento, Poongulali, Selvamuthu, Tripathy, Srikanth, Bollinger, Robert C., Currier, Judith S., Tang, Alice M., Semba, Richard D., Christian, Parul, Campbell, Thomas B., and Gupta, Amita

Published
2015

37. Pretreatment HIV Drug Resistance and HIV-1 Subtype C Are Independently Associated With Virologic Failure: Results From the Multinational PEARLS (ACTG A5175) Clinical Trial

Author

AIDS Clinical Trials Group (ACTG) A5175 Study Team, Kantor, Rami, Smeaton, Laura, Vardhanabhuti, Saran, Hudelson, Sarah E., Wallis, Carol L., Tripathy, Srikanth, Morgado, Mariza G., Saravanan, Shanmugham, Balakrishnan, Pachamuthu, Reitsma, Marissa, Hart, Stephen, Mellors, John W., Halvas, Elias, Grinsztejn, Beatriz, Hosseinipour, Mina C., Kumwenda, Johnstone, La Rosa, Alberto, Lalloo, Umesh G., Lama, Javier R., Rassool, Mohammed, Santos, Breno R., Supparatpinyo, Khuanchai, Hakim, James, Flanigan, Timothy, Kumarasamy, Nagalingeswaran, Campbell, Thomas B., and Eshleman, Susan H.

Published
2015

39. Monotypic low-level HIV viremias during antiretroviral therapy are associated with disproportionate production of X4 virions and systemic immune activation

Author

Bull, Marta E., Mitchell, Caroline, Soria, Jaime, Styrchak, Sheila, Williams-Wietzikoski, Corey, Legard, Jillian, McKernan-Mullin, Jennifer, Kraft, Kelli, Onchiri, Frankline, Stern, Joshua, Holte, Sarah, Ryan, Kevin J., Acosta, Edward P., La Rosa, Alberto, Coombs, Robert W., Ticona, Eduardo, and Frenkel, Lisa M.

Published
2018
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42. Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Author

Lopez-de la Rosa, Alberto, Telleria, Juan J., Posada de la Paz, Manuel, Hermosilla-Gimeno, Isabel M., Rivas, Miren Agurtzane, Gilabert, Raúl, and Coco-Martín, Rosa M.

Subjects
*EYE diseases, *RARE diseases, *MEDICAL registries, *RETINAL diseases, *SYMPTOMS, *AGENESIS of corpus callosum
Abstract

Background: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry. Methods: A total of 864 patients from the registry database were included. Diseases were categorized into inherited retinal dystrophies (n=688); anterior segment diseases (n=48); congenital malformations (n=27); and syndromic diseases with ocular involvement including muscular (n=46), neurological (n=34), or metabolic (n=13); inflammatory diseases (n=4); and tumors (n=4). Data on visual acuity (VA) and/or visual field (VF), symptoms and signs, concurrent diseases in syndromic cases, age of onset and at diagnosis, affected genes, disability rating, inability to work and dependency grade recognition were collected. Results: A mean diagnostic delay of 7 years from symptom onset was observed. Commonly reported symptoms included photophobia, night blindness, and progressive vision loss (≥57% of patients). Cataract was the most prevalent secondary disease (46%), with pseudophakia being the most common ocular surgery (26%). Hearing loss and cardiovascular diseases were the most prevalent concurrent systemic diseases (≥13%). Certificates of disability, incapacity for work, and dependency were held by 87%, 42%, and 19% of patients, respectively. Among the 719 patients with available VA data, 193 (27%) were blind, and 188 (26%) had moderate to severe visual impairment. Over half of the patients (54%) exhibited VF defects, and 216 (25%) had concentric contraction ≤5° or abolished VF. Most had genetic diseases with autosomal recessive (55%), autosomal dominant (30%), X-linked (9%), and mitochondrial (6%) patterns. One patient had mutations in both recessive USH2A and dominant RHO genes simultaneously. Of the 656 patients (75.7%) who underwent genetic testing, only 461 (70.3%) received a positive result (pathogenic or likely pathogenic mutations explaining the phenotype). We found 62 new gene variants related to RED not previously reported in databases of genetic variants related to specific phenotypes. Conclusions: This study delineates the clinical and genotypic profiles of RED in Spain. Genetic diseases, particularly retinal disorders, predominate, but a significant proportion of affected patients remain genetically undiagnosed, hindering potential gene therapy endeavors. Despite notable improvements in reducing diagnosis delays, it is still remarkable. RED frequently lead to disability and blindness among young populations. [ABSTRACT FROM AUTHOR]

Published
2023
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