MARIA FERNANDA ABALEM DE SA CARRICONDO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/33 - Laboratório de Oftalmologia, Hospital das Clínicas, Faculdade de Medicina
LIM/33 - Laboratório de Oftalmologia, Hospital das Clínicas, Faculdade de Medicina
9 resultados
Resultados de Busca
Agora exibindo 1 - 9 de 9
- Positive feedback loop between vision-related anxiety and self-reported visual difficulty(2023) POPOVA, Lilia T.; ABUZAITOUN, Rebhi O.; FRESCO, David M.; ABALEM, Maria Fernanda; ANDREWS, Chris A.; MUSCH, David C.; EHRLICH, Joshua R.; JAYASUNDERA, K. ThiranBackgroundPatients with Inherited Retinal Diseases typically experience progressive, irreversible vision loss resulting in low vision and blindness. As a result, these patients are at high risk for vision-related disability and psychological distress, including depression and anxiety. Historically, the relationship between self-reported visual difficulty (encompassing metrics of vision-related disability and quality of life, among others) and vision-related anxiety has been regarded as an association and not a causal relationship. As a result, there are limited interventions available that address vision-related anxiety and the psychological and behavioral components of self-reported visual difficulty.Materials and MethodsWe applied the Bradford Hill criteria to evaluate the case for a bidirectional causal relationship between vision-related anxiety and self-reported visual difficulty.ResultsThere is sufficient evidence to satisfy all nine of the Bradford Hill criteria of causality (strength of association, consistency, biological gradient, temporality, experimental evidence, analogy, specificity, plausibility, and coherence) for the relationship between vision-related anxiety and self-reported visual difficulty.ConclusionsThe evidence suggests that there is a direct positive feedback loop-a bidirectional causal relationship-between vision-related anxiety and self-reported visual difficulty. More longitudinal research on the relationship between objectively-measured vision impairment, self-reported visual difficulty, and vision-related psychological distress is needed. Additionally, more investigation of potential interventions for vision-related anxiety and visual difficulty is needed.
- Patient-reported outcome measures in inherited retinal degeneration gene therapy trials(2020) LACY, Gabrielle D.; ABALEM, Maria Fernanda; MUSCH, David C.; JAYASUNDERA, Kanishka T.Patient-reported outcome (PRO) measures have the potential to uniquely capture patient experience and serve as an outcome measure in inherited retinal degeneration (IRD) gene therapy trials. An IRD-specific patient-reported outcome measure may yield valuable information that has not been obtained from inherited retinal dystrophy gene therapy trials published to-date. Existing PRO measures have inherent limitations for use in IRD gene therapy trials. Developing an applicable patient-reported outcome measure for such trials needs to incorporate patient input from the target population, demonstrate sound psychometric properties, and be made in accordance with U.S. Food and Drug Administration (FDA) guidelines. This review will discuss the currently available PRO instruments, their limitations for IRD therapeutic trials, and suggestions for future PRO development in IRD populations. The PRO instruments highlighted were identified in PubMed search of English-language journals and previously published review articles.
- Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases(2023) POPOVA, Lilia T. T.; ABUZAITOUN, Rebhi O. O.; ABALEM, Maria Fernanda; ANDREWS, Chris A. A.; MONDUL, Alison M. M.; LACY, Gabrielle D. D.; MUSCH, David C. C.; JAYASUNDERA, K. ThiranBackground: Patients with Inherited Retinal Diseases (IRDs) are at increased risk for vision-related anxiety due to progressive and irreversible vision loss, yet little is known about risk factors for anxiety in these patients. Materials and Methods: This was a single-center, retrospective cross-sectional study at a large academic center. 128 adults with an IRD and without other significant eye conditions were recruited between December 2016 and March 2020. Participants were asked about the duration and number of symptoms they had in the following vision domains: reading, contrast vision, color vision, glare/light sensitivity, night vision, and peripheral vision. The outcomes of interest were the two domains of the Michigan Vision-Related Anxiety Questionnaire (MVAQ), rod- and cone-function related anxiety. We conducted an adjusted analysis to isolate the independent effect of duration and number of symptoms on vision-related anxiety. Results: Of 126 participants had complete data, 62 (49%) were female and 64 (51%) were male, with an average age of 49 years (range: 18-87). Patients with duration of symptoms for greater than 25 years had an adjusted anxiety theta that was one-half standard deviations lower than patients with symptoms for less time. Patients with higher number of symptoms had higher anxiety theta after adjusting for confounding variables (p < 0.0001). Conclusions: The number of symptoms but not the duration of symptoms, is an independent risk factor for vision-related anxiety. Patients with more symptoms are at higher risk for vision-related anxiety. Having symptoms for longer than 25 years may reduce this anxiety.
- Double hyperautofluorescent ring on fundus autofluorescence in ABCA4(2018) ABALEM, Maria Fernanda; QIAN, Cynthia X.; BRANHAM, Kari; SCHLEGEL, Dana; FAHIM, Abigail T.; KHAN, Naheed W.; HECKENLIVELY, John R.; JAYASUNDERA, K. ThiranWe report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence. Over 4 years of follow-up, the retinal atrophy continued to progress, resulting in two well-defined and concentric hyperautofluorescent rings: one ring located at the posterior pole and the other located around the peripapillary region. Visual acuity also deteriorated to counting fingers at 4ft OD and 20/500 OS. To the best of our knowledge, this phenotype has not been previously described with the ABCA4 gene.
- Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population(2023) MARQUES, Joao Pedro; SOARES, Ricardo Machado; SIMAO, Silvia; ABUZAITOUN, Rebhi; ANDREWS, Chris; ALVES, C. Henrique; AMBROSIO, Antonio Francisco; MURTA, Joaquim; SILVA, Rufino; ABALEM, Maria Fernanda; JAYASUNDERA, K. ThiranPurpose: To evaluate self-reported visual function and the psychosocial impact of visual loss EYSassociated 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. Clinical data including demographics, ETDRS best corrected visual acuity (BCVA) in the better-seeing eye and genetic testing results were collected. Interviews were carried out during clinic visits or by phone between November 2021 and February 2022. A blind grader used horizontal and vertical spectral domain optical coherence tomography (SD-OCT) scans to manually measure ellipsoid zone (EZ) width in the nasal, temporal, superior and inferior macular quadrants to calculate the EZ area.Results: Forty-nine patients (53.1% males; mean age 53 +/- 14 years) were included. A positive correlation (p < .05) was found between age and most MRDQ domain scores (central vision, color vision, contrast sensitivity, scotopic function, photopic peripheral vision and mesopic peripheral vision). A negative correlation was found between both BCVA and EZ area across all MRDQ domains. In MVAQ, SD-OCT EZ area negatively correlated with both rod function and cone function-related anxiety. Neither age, BCVA or gender correlated with MVAQ domains.Conclusions: This study provides strong evidence supporting a correlation between PRO measures and both functional and structural clinician-reported outcomes. The use of MRDQ and MVAQ adds a new dimension to our understanding of EYS-RD and establishes both PRO measures as important disease outcome measures.
- Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials(2020) LACY, Gabrielle D.; ABALEM, Maria Fernanda; POPOVA, Lilia T.; SANTOS, Erin P.; YU, Gina; RAKINE, Hanan Y.; ROSENTHAL, Julie M.; EHRLICH, Joshua R.; MUSCH, David C.; JAYASUNDERA, K. ThiranPurpose Generate content for a patient-reported outcome (PRO) measure for use in future clinical trials for inherited retinal degenerations. Methods Patients at the University of Michigan Kellogg Eye Center with a clinical diagnosis of inherited retinal degeneration with varying phenotypes were recruited for interviews. First, in-depth interviews were performed to solicit a wide range of patient experiences pertaining to visual function. Coders qualitatively analyzed the transcripts from these interviews using Atlas.ti software (Version 8.1.3 (522)) to draft questionnaire items. Next, the questionnaire was tested and refined based on participant feedback in cognitive interviews and administrator feedback in the pilot survey administration (pilot interviews). Results A total of 55 participants with a clinical diagnosis of inherited retinal degeneration were interviewed throughout the three study phases: in-depth interviews (n = 26), cognitive interviews (n = 16), and pilot interviews (n = 13). Coded items were analyzed for frequency of occurrence and related themes, then organized into common domains. Within each domain, PRO items were drafted to address the functional limitations or adaptations experienced by patients. Conclusions Items for a PRO measure have been drafted and evaluated for interpretability in the target inherited retinal degeneration patient population. Content validity for the items was established through a process of in-depth interviews, cognitive interviews, and pilot interviews.
- The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients(2023) SELVAN, Kavin; ABUZAITOUN, Rebhi; ABALEM, Maria Fernanda; VINCENT, Ajoy; ANDREWS, Chris A. A.; LACY, Gabrielle D. D.; FARJO, Rafid; KAO, Karissa; KAO, Krystal; DAGNELIE, Gislin; MUSCH, David C. C.; JAYASUNDERA, K. Thiran; HEON, ElisePurpose: To determine the validity of the validate the adult patient-reported outcome measure tools, the Michigan Retinal Degeneration Questionnaire (MRDQ) and Michigan Vision-Related Anxiety Questionnaire (MVAQ), in adolescent patients with inherited retinal diseases (IRDs).Methods: Ninety-one adolescent patients diagnosed with IRDs were recruited at the Hospital for Sick Children (University of Toronto) and the Kellogg Eye Center (University of Michigan). The patients were administered the MRDQ, MVAQ, and Patient Health Questionnaire-4 (PHQ-4). Test-retest variability was assessed in eighteen patients within 14 days of the initial administration. Adolescent responses were analyzed for validity and reliability. As a further validation step, comparisons were made to adult data from the original MRDQ and MVAQ studies to ensure consistency in response ranges.Results: The existing MRDQ and MVAQ content and format could accurately detect the impact of IRD on activities of daily living in adolescents with IRDs. No floor/ceiling effects were identified, test-retest reliability was established (r = 0.73-0.86), and no items were excluded after differential item functioning analysis. Domain and trait associations with visual acuity and IRD phenotypes were similar between adolescents and adults.Conclusions: The MRDQ and MVAQ are psychometrically validated questionnaires for which we have shown validity for use in adolescent patients with IRDs.
- Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis(2018) ABALEM, Maria Fernanda; MUSCH, David C.; BIRCH, David G.; PENNESI, Mark E.; HECKENLIVELY, John R.; JAYASUNDERA, ThiranBackground: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). Methods: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p.m., and 4 p.m. within 24 h. Results: All patients demonstrated increased measures of central foveal thickness in the morning with gradual decrease through the day (9-43%). Major changes were observed between 9 a.m. and 1 p.m. in the central foveal thickness. Conclusion: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients.
- Portuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degenerations(2022) MARQUES, Joao Pedro; BERNARDES, Luis; OLIVEIRA, Carolina; FONSECA, Gabriela; GIL, Joao Quadrado; SOTERO, Luciana; RELVAS, Ana Paula; MURTA, Joaquim; SILVA, Rufino; LACY, Gabrielle Davis; ABALEM, Maria Fernanda; JAYASUNDERA, K. Thiran