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
8 resultados
Resultados de Busca
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conferenceObject Validating Patient-Reported Outcome Measures for Adolescents with Inherited Retinal Diseases(2023) SELVAN, Kavin; ABUZAITOUN, Rebhi; ABALEM, Maria; VINCENT, Ajoy; ANDREWS, Chris; LACY, Gabrielle; FARJO, Rafid; KAO, Karissa; KAO, Krystal; DAGNELIE, Gislin; MUSCH, David; JAYASUNDERA, K.; HEON, Elise- 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.
- Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence(2017) ABALEM, Maria Fernanda; OTTE, Benjamin; ANDREWS, Chris; JOLTIKOV, Katherine A.; BRANHAM, Kari; FAHIM, Abigail T.; SCHLEGEL, Dana; QIAN, Cynthia X.; HECKENLIVELY, John R.; JAYASUNDERA, ThiranPURPOSE: To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4 Stargardt disease (STGD) and correlate these data with functional outcome measures. DESIGN: Retrospective cross-sectional study. METHODS: SETTING: Kellogg Eye Center, University of Michigan. STUDY POPULATION: Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. OBSERVATIONAL PROCEDURES: The UWF-FAF images were obtained using Optos (200 degrees) and classified into 3 types. Functional testing included kinetic widefield perimetry, electroretinogram (ffERG), and visual acuity (VA). All results were evaluated with respect to UWF-FAF classification. MAIN OUTCOME MEASURES: Classification of UWF-FAF; area comprising the I4e, III4e, and IV4e isopters; ffERG patterns; and VA. RESULTS: For UWF-FAF, 27 subjects (41.5%) were classified as type I, 17 (26.2%) as type. II, and 21 (32.4%) as type III. The area of each isopter correlated inversely with the extent of the disease and all isopters were able to detect differences among UWF-FAF types (IV4e, P = .0013; II14e, P = .0003; I4e, P < .0001 = 3.93e(-8)). ffERG patterns and VA were also different among the 3 UWF-FAF types (P < .001 = 6.61e(-6) and P < .001 = 7.3e(-5), respectively). CONCLUSION: Patients with widespread disease presented with more constriction of peripheral visual fields and had more dysfunction on ffERG and worse VA compared to patients with disease confined to the macula. UWF-FAF images may provide information for estimating peripheral and central visual function in STGD. (C) 2017 Published by Elsevier Inc.
- Confluent Endpoint Subthreshold Argon Laser for Serous Macular Detachment in Tilted Disc Syndrome Refractory to Anti-VEGF(2017) ABALEM, Maria Fernanda; CARRICONDO, Pedro Carlos; SANTOS, Helen Nazareth Veloso dos; GARCIA, Rafael; QIAN, Cynthia X.; HELAL JR., John; SOUZA, Eduardo Cunha de; TAKAHASHI, Walter YukihikoA 70-year-old woman presented with 20/200 visual acuity in the right eye. Multimodal imaging revealed tilted disc syndrome (TDS) with macular serous detachment (MSD) and pigmentary changes at the temporal margin of the optic disc. Subretinal fluid persisted after three monthly intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA) injections and threshold focal laser photocoagulation. Subsequently, confluent subthreshold argon laser was applied over the entire area of retinal pigment epithelium (RPE) abnormalities, resulting in the resolution of subretinal fluid without recurrence through 3 years of followup. Subthreshold argon laser treatment may serve as a therapeutic option for MSD in TDS. Targeting leakage sites and stimulating RPE cells might help absorb subretinal fluid.
- 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.
- Choroidal and Retinal Abnormalities by Optical Coherence Tomography in Endogenous Cushing's Syndrome(2016) ABALEM, Maria Fernanda; MACHADO, Marcio Carlos; SANTOS, Helen Nazareth Veloso Dos; GARCIA, Rafael; HELAL JR., John; CARRICONDO, Pedro Carlos; PIMENTEL, Sergio Luis Gianotti; MONTEIRO, Mario Luiz Ribeiro; QIAN, Cynthia X.; BRONSTEIN, Marcello Delano; FRAGOSO, Maria Candida Villares BarissonContext: Cortisol has been suggested as a risk factor for choroidal thickening, which may lead to retinal changes. Objective: To compare choroidal thickness measurements using optical coherence tomography (OCT) in patients with endogenous active Cushings syndrome (CS) and to evaluate the occurrence of retinal abnormalities in the same group of patients. Design: Cross-sectional study. Setting: Outpatient clinic. Patients: Eleven female patients with CS in hypercortisolism state as determined by the presence of at least two abnormal measurements from urinary cortisol 24 h, no suppression of cortisol with low dose dexamethasone suppression test, and nocturnal salivary cortisol levels and 12 healthy controls. Methods: Choroidal and retinal morphology was assessed using OCT. Main outcome measures: Choroidal thickness measurements and the presence of retinal changes. Results: The mean subfoveal choroidal thickness was 372.96 +/- 73.14 m in the patients with CS and 255.63 +/- 50.70 mu m in the control group (p < 0.001). One patient (9.09%) presented with central serous chorioretinopathy and one patient (9.09%) with pachychoroid pigment epitheliopathy. Conclusion: Choroidal thickness is increased in the eyes of patients with active CS compared to healthy and matched control. Also, 18.18% of patients presented with macular changes, possibly secondary to choroidal thickening. While further studies are necessary to confirm our findings, excess corticosteroid levels seem to have a significant effect on the choroid and might be associated with secondary retinal diseases.
- The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease(2022) SELVAN, Kavin; ABALEM, Maria F.; LACY, Gabrielle D.; VINCENT, Ajoy; HEON, ElisePatient-reported outcome measures (PROMs) are questionnaires that assess health outcomes meaningful to the patient. PROMs have multiple applications, such as supporting clinicians' decision-making for patient care, understanding the impact of disease on patient functioning, and evaluating the efficacy of therapeutics. Though PROMs were developed for various eye conditions, no PROM was tailored to pediatric patients with inherited retinal disease (IRD). Hence, a literature search was conducted using MEDLINE and Embase to identify PROMs potentially relevant to this patient population. This review evaluated selected pediatric PROMs against the US Food and Drug Administration (FDA) guidelines and found restricted use in the context of IRD. As there is a need for PROMs tailored to pediatric patients with IRD, we provide a perspective on applying the International Society for Pharmacoeconomics and Outcomes Research and FDA standards on the development of PROMs specific to IRD. Plain Language Summary Inherited retinal diseases refer to a group of genetic conditions that affect the eye's light-sensing cells and lead to vision loss. When a patient undergoes an eye assessment, the measures used are technical (e.g., visual acuity, visual field) and do not routinely address the patient's experience. It is increasingly evident that the technical tools used do not really reflect how patients' vision affects their daily lives. Questionnaires designed to assess how a condition impacts a daily activity are referred to as patient-reported outcome measures. The perspective of the impact of a condition on daily activities differs between adults and children. These tools are being created to evaluate health outcomes important to the patient on the basis of their condition and age. This is especially important when determining the value of therapies from the patient perspective. To date, no such questionnaire has been designed for pediatric patients with inherited retinal disease, an important cause of blindness. We explored the literature to evaluate existing pediatric vision tools and found that those could not be used to fill this gap. Given that we found a need to develop questionnaires tailored to pediatric patients with IRD, we also provide insight into how such a tool can be created for this population.
- Peripheral Pigmented Retinal Lesions in Stargardt Disease(2018) ZHAO, Peter Y.; ABALEM, Maria Fernanda; NADELMAN, Daniel; QIAN, Cynthia X.; BRANHAM, Kari; SCHLEGEL, Dana; KHAN, Naheed; HECKENLIVELY, John R.; JAYASUNDERA, ThiranPURPOSE: To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease. DESIGN: Retrospective case series. METHODS: Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging. For this cohort we described demographics, clinical features, and pathogenic variants. RESULTS: Out of 62 patients with Stargardt disease and wide-field retinal imaging, 14 had peripheral pigmented retinal lesions. These flat, subretinal lesions were located in the mid or far periphery and had well-defined borders, resembling congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions. For this group of 14 patients, median age at initial diagnosis of Stargardt disease was 9.5 years, and the median duration of disease was 21.5 years. Median Snellen visual acuity was 20/200, and median central scotoma size was 20.0 degrees. All 14 patients had electroretinographic abnormalities. Four out of 14 patients developed new lesions during clinical follow-up. CONCLUSIONS: Wide-field retinal imaging revealed the presence of peripheral pigmented retinal lesions resembling CHRPE lesions in a subset of patients with genetically confirmed Stargardt disease. Presence of these lesions may be associated with severe phenotypes of the disease.