Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements
Objective: To characterize longitudinal multimodal imaging characteristics of Best vitelliform macular dystrophy (BVMD) and describe novel outcome measurements for future clinical trials. Design: A single-center retrospective cohort study. Subjects: A total of 36 eyes of 18 patients with genetically...
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Elsevier
2025-09-01
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| Series: | Ophthalmology Science |
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| author | Jose Ronaldo Lima de Carvalho, Jr., MD Jin Kyun Oh, MD Sara Ragi, BS Joonpyo Kim, PhD Remy S. Manzi, MD Emily Sun, MD Thiago Cabral, MD, PhD Rubens Belfort, Jr., MD, PhD Vivienne C. Greenstein, PhD Janet R. Sparrow, PhD Stephen H. Tsang, MD, PhD |
| author_facet | Jose Ronaldo Lima de Carvalho, Jr., MD Jin Kyun Oh, MD Sara Ragi, BS Joonpyo Kim, PhD Remy S. Manzi, MD Emily Sun, MD Thiago Cabral, MD, PhD Rubens Belfort, Jr., MD, PhD Vivienne C. Greenstein, PhD Janet R. Sparrow, PhD Stephen H. Tsang, MD, PhD |
| author_sort | Jose Ronaldo Lima de Carvalho, Jr., MD |
| collection | DOAJ |
| description | Objective: To characterize longitudinal multimodal imaging characteristics of Best vitelliform macular dystrophy (BVMD) and describe novel outcome measurements for future clinical trials. Design: A single-center retrospective cohort study. Subjects: A total of 36 eyes of 18 patients with genetically and clinically confirmed diagnoses of BVMD were evaluated. Methods: Patients underwent complete ophthalmic examination and multimodal imaging including spectral-domain OCT and short-wavelength autofluorescence. Dark-adapted chromatic (DAC) perimetry was obtained in 8 of 18 patients. Main Outcome Measures: Longitudinal changes in lesion width, area, and measures of retinal thickness, including outer nuclear layer (ONL) thickness, were evaluated as primary outcome measures. The changes were measured at every visit to the ophthalmology clinic, with a difference between the first and most recent individual's visit of 76.56 ± 33.36 months (range 10–123 months), on average. Scotopic sensitivity as measured by DAC perimetry was compared within and outside the lesion. Results: Lesion width increased with progressive disease stage from the vitelliform stage (1.345 ± 0.218 mm) through the vitelliruptive stage (2.913 ± 0.893 mm) before decreasing in the atrophic stage (2.287 ± 0.456 mm). Central macular thickness increased between the vitelliform (0.277 ± 0.132 mm) and the pseudohypopyon stage (0.334 ± 0.055 mm) before decreasing through the vitelliruptive (0.288 ± 0.085 mm) and atrophic stages (0.236 ± 0.020 mm). Measurements of ONL thickness at the temporal and nasal borders of the lesion demonstrated a significant difference over time (P = 0.001). Dark-adapted chromatic perimetry showed significant differences in scotopic sensitivity within the lesion compared with outside the lesion and compared with values for normal control subjects (P < 0.05). Conclusions: Features of multimodal imaging, including measurements of ONL thickness along the temporal and nasal borders of the lesion, as well as scotopic sensitivity as measured by DAC perimetry, may serve as valuable outcome measurements for treatment trials for BVMD. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article. |
| format | Article |
| id | doaj-art-c3e9eb255807437dafe0de405fa138eb |
| institution | DOAJ |
| issn | 2666-9145 |
| language | English |
| publishDate | 2025-09-01 |
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| series | Ophthalmology Science |
| spelling | doaj-art-c3e9eb255807437dafe0de405fa138eb2025-08-20T03:16:10ZengElsevierOphthalmology Science2666-91452025-09-015510082310.1016/j.xops.2025.100823Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome MeasurementsJose Ronaldo Lima de Carvalho, Jr., MD0Jin Kyun Oh, MD1Sara Ragi, BS2Joonpyo Kim, PhD3Remy S. Manzi, MD4Emily Sun, MD5Thiago Cabral, MD, PhD6Rubens Belfort, Jr., MD, PhD7Vivienne C. Greenstein, PhD8Janet R. Sparrow, PhD9Stephen H. Tsang, MD, PhD10Department of Ophthalmology, Empresa Brasileira de Serviços Hospitalares (EBSERH) – Hospital das Clínicas de Pernambuco (HCPE), Federal University of Pernambuco (UFPE), Recife, Brazil; Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY; Department of Ophthalmology, Federal University of São Paulo, São Paulo, São Paulo, BrazilDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NYDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NYDepartment of Mathematics and Statistics, Sejong University, Seoul, South KoreaDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NYDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NYDepartment of Ophthalmology, Federal University of São Paulo, São Paulo, São Paulo, Brazil; Department of Specialized Medicine, CCS/UFES and Vision Unit, Ophthalmology, EBSERH/HUCAM/UFES—Federal University of Espírito Santo (UFES), Vitória, BrazilDepartment of Ophthalmology, Federal University of São Paulo, São Paulo, São Paulo, BrazilDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NYDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY; Columbia Stem Cell Initiative, Department of Pathology and Cell Biology, Institute of Human Nutrition, Columbia University Irving Medical Center, New York, NYDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY; Columbia Stem Cell Initiative, Department of Pathology and Cell Biology, Institute of Human Nutrition, Columbia University Irving Medical Center, New York, NY; Correspondence: Stephen H. Tsang, MD, PhD, Edward Harkness Eye Institute Res..., Columbia University Irving Medical Center, 635 W. 165th St. Room 513, New York, NY 10032.Objective: To characterize longitudinal multimodal imaging characteristics of Best vitelliform macular dystrophy (BVMD) and describe novel outcome measurements for future clinical trials. Design: A single-center retrospective cohort study. Subjects: A total of 36 eyes of 18 patients with genetically and clinically confirmed diagnoses of BVMD were evaluated. Methods: Patients underwent complete ophthalmic examination and multimodal imaging including spectral-domain OCT and short-wavelength autofluorescence. Dark-adapted chromatic (DAC) perimetry was obtained in 8 of 18 patients. Main Outcome Measures: Longitudinal changes in lesion width, area, and measures of retinal thickness, including outer nuclear layer (ONL) thickness, were evaluated as primary outcome measures. The changes were measured at every visit to the ophthalmology clinic, with a difference between the first and most recent individual's visit of 76.56 ± 33.36 months (range 10–123 months), on average. Scotopic sensitivity as measured by DAC perimetry was compared within and outside the lesion. Results: Lesion width increased with progressive disease stage from the vitelliform stage (1.345 ± 0.218 mm) through the vitelliruptive stage (2.913 ± 0.893 mm) before decreasing in the atrophic stage (2.287 ± 0.456 mm). Central macular thickness increased between the vitelliform (0.277 ± 0.132 mm) and the pseudohypopyon stage (0.334 ± 0.055 mm) before decreasing through the vitelliruptive (0.288 ± 0.085 mm) and atrophic stages (0.236 ± 0.020 mm). Measurements of ONL thickness at the temporal and nasal borders of the lesion demonstrated a significant difference over time (P = 0.001). Dark-adapted chromatic perimetry showed significant differences in scotopic sensitivity within the lesion compared with outside the lesion and compared with values for normal control subjects (P < 0.05). Conclusions: Features of multimodal imaging, including measurements of ONL thickness along the temporal and nasal borders of the lesion, as well as scotopic sensitivity as measured by DAC perimetry, may serve as valuable outcome measurements for treatment trials for BVMD. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.http://www.sciencedirect.com/science/article/pii/S2666914525001216Best diseaseDark-adapted chromatic perimetryMultimodal imagingOutcome measurementsClinical trials |
| spellingShingle | Jose Ronaldo Lima de Carvalho, Jr., MD Jin Kyun Oh, MD Sara Ragi, BS Joonpyo Kim, PhD Remy S. Manzi, MD Emily Sun, MD Thiago Cabral, MD, PhD Rubens Belfort, Jr., MD, PhD Vivienne C. Greenstein, PhD Janet R. Sparrow, PhD Stephen H. Tsang, MD, PhD Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements Ophthalmology Science Best disease Dark-adapted chromatic perimetry Multimodal imaging Outcome measurements Clinical trials |
| title | Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements |
| title_full | Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements |
| title_fullStr | Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements |
| title_full_unstemmed | Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements |
| title_short | Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements |
| title_sort | multimodal imaging and dark adapted chromatic perimetry in best1 vitelliform macular dystrophy identification of outcome measurements |
| topic | Best disease Dark-adapted chromatic perimetry Multimodal imaging Outcome measurements Clinical trials |
| url | http://www.sciencedirect.com/science/article/pii/S2666914525001216 |
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