BEST1黄斑营养不良的多模态成像和暗适应色度测量：结果测量的确定

IF 3.2 Q1 OPHTHALMOLOGY

Ophthalmology science Pub Date : 2025-05-06 DOI:10.1016/j.xops.2025.100823

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

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引用次数: 0

摘要

目的探讨最佳卵黄样黄斑营养不良（BVMD）的纵向多模态影像学特征，并为未来的临床试验描述新的结果测量方法。设计一项单中心回顾性队列研究。对18例经遗传和临床证实的BVMD患者共36只眼进行评估。方法对患者进行全面眼科检查和多模态成像，包括光谱域OCT和短波自身荧光。18例患者中有8例行暗适应色（DAC）透视。主要观察指标病灶宽度、面积和视网膜厚度（包括外核层（ONL）厚度）的纵向变化被评价为主要观察指标。这些变化在每次就诊时进行测量，第一次就诊与最近一次就诊的平均差异为76.56±33.36个月（范围10-123个月）。比较DAC透视法测得的黑药敏感性病变内外。结果卵黄期（1.345±0.218 mm）至卵黄期（2.913±0.893 mm），裂谷宽度随疾病的进展而增大，萎缩期（2.287±0.456 mm），裂谷宽度逐渐减小。黄斑中央厚度在卵黄期（0.277±0.132 mm）至假性低卵黄期（0.334±0.055 mm）增加，在卵黄期（0.288±0.085 mm）至萎缩期（0.236±0.020 mm）下降。在病变的颞部和鼻部边界测量ONL厚度显示随着时间的推移有显著差异（P = 0.001）。暗适应色度透视显示病灶内与病灶外的幽暗敏感性以及与正常对照者的值相比存在显著差异(P <；0.05)。结论：多模态成像特征，包括沿病变颞部和鼻缘的ONL厚度测量，以及DAC周边测量的暗位敏感性，可以作为BVMD治疗试验的有价值的结果测量指标。财务披露专有或商业披露可在本文末尾的脚注和披露中找到。

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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 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.