Lima de Carvalho Jose Ronaldo, Oh Jin Kyun, Ragi Sara, Kim Joonpyo, Manzi Remy S, Sun Emily, Cabral Thiago, Belfort Rubens, Greenstein Vivienne C, Sparrow Janet R, Tsang Stephen H
Department 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.
Ophthalmol Sci. 2025 May 6;5(5):100823. doi: 10.1016/j.xops.2025.100823. eCollection 2025 Sep-Oct.
To characterize longitudinal multimodal imaging characteristics of Best vitelliform macular dystrophy (BVMD) and describe novel outcome measurements for future clinical trials.
A single-center retrospective cohort study.
A total of 36 eyes of 18 patients with genetically and clinically confirmed diagnoses of BVMD were evaluated.
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.
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.
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 ( = 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 ( < 0.05).
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.
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
描述Best卵黄样黄斑营养不良（BVMD）的纵向多模态成像特征，并为未来的临床试验描述新的疗效测量指标。
单中心回顾性队列研究。
对18例经基因和临床确诊为BVMD的患者的36只眼进行了评估。
患者接受了全面的眼科检查和多模态成像，包括光谱域光学相干断层扫描（SD-OCT）和短波自发荧光。18例患者中的8例进行了暗适应色觉（DAC）视野检查。
将病变宽度、面积以及视网膜厚度测量值（包括外核层厚度）的纵向变化作为主要观察指标。在每次眼科门诊就诊时进行测量，首次就诊与最近一次就诊之间的时间间隔平均为76.56±33.36个月（范围10 - 123个月）。比较病变内和病变外通过DAC视野检查测得的暗视敏感度。
病变宽度随着疾病进展阶段而增加，从卵黄样期（1.345±0.218mm）到卵黄破裂期（2.913±0.893mm），然后在萎缩期下降（2.287±0.456mm）。中心黄斑厚度在卵黄样期（0.277±0.132mm）和假性前房积脓期（0.334±0.055mm）之间增加，然后在卵黄破裂期（0.288±0.085mm）和萎缩期（0.236±0.020mm）下降。病变颞侧和鼻侧边界处的外核层厚度测量值随时间有显著差异（P = 0.001）。暗适应色觉视野检查显示，病变内的暗视敏感度与病变外以及与正常对照受试者的值相比有显著差异（P < 0.05）。
多模态成像特征，包括沿病变颞侧和鼻侧边界测量外核层厚度，以及通过DAC视野检查测得的暗视敏感度，可能作为BVMD治疗试验中有价值的疗效测量指标。
在本文末尾的脚注和披露中可能会找到专有或商业披露信息。
