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 ( = 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).

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 DISCLOSURES

Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.