Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy

Abstract

Purpose To investigate the clinical and imaging features associated with retinal sensitivity in Best vitelliform macular dystrophy (BVMD). Methods This was a cross-sectional, single-center, observational study. Each patient underwent optical coherence tomography (OCT), near-infrared fundus autofluorescence, and OCT angiography. Macular integrity assessment microperimetry under mesopic conditions was performed to obtain retinal sensitivity thresholds from 68 testing points in the central macula. Structural OCT was used to classify BVMD lesions into four types according to their composition: vitelliform, mixed, subretinal fluid, and atrophy. Multilevel, mixed-effects linear regression was used to determine the factors associated with retinal sensitivity. Results The study included 57 eyes of 30 patients with BVMD, 48 of which (84%) were in a clinical stage. Mean retinal sensitivity varied according to the composition of the lesion: the vitelliform type registering the highest (22 ± 4.1 dB), followed by mixed (18.73 ± 2.7 dB), subretinal fluid (15.68 ± 4.2 dB), and atrophy types (11.85 ± 4.6 dB). The factors most strongly associated with mean retinal sensitivity in BVMD proved to be the OCT lesion type and outer nuclear layer thickness. Conclusions Retinal sensitivity in BVMD is influenced by lesion composition and outer nuclear layer thickness. Further studies with long-term follow-up are warranted to examine retinal sensitivity over time and to validate retinal sensitivity changes as biomarkers for BVMD. Translational Relevance Assessing retinal sensitivity in BVMD provides a new instrument in the clinical characterization of the disease and offers the opportunity to identify imaging biomarkers for use as outcome measures in future clinical trials.

An unusual case of rapid resolution of bilateral vitelliform deposits after discontinuation of pentosan polysulfate sodium

“…Freund et al 15 postulated that vitelliform lesions spontaneously resolved when there was enough loss of overlying ONL and that RPE could again clear material generated by photoreceptors. In addition, recent findings by Battaglia Parodi et al 16 identified the factors most strongly associated with retinal sensitivity in Best vitelliform macular dystrophy which included lesion type on SD-OCT and outer nuclear layer (ONL) thickness. The authors found that reabsorption of the vitelliform material was associated with a reduction of retinal sensitivity, similar to the findings in the present case.…”

Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa

“…Microperimetry was carried out using the Macular Integrity Assessment microperimeter (CenterVue, Padua, Italy) on a 68-point grid adopting a mesopic testing protocol detailed elsewhere. 23 Multifocal ERG (mfERG; Retimax CSO, Florence, Italy) was recorded for each patient following the International Society for Clinical Electrophysiology of Vision standards, 24 after pupil dilatation to at least 7 mm using 1% tropicamide and using DTL Plus electrodes (Diagnosys LLC, Lowell, MA, USA) applied on the conjunctiva at the inferior limbus (ground electrode was attached to the forehead). The recorded signal was processed through a 5- to 100-Hz bandpass filter and amplified through a 30,000 gain.…”

Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights

“…Moreover, BCVA and retinal sensitivity correlate with ONL thickness. 37 , 38 Therefore, ONL thickness may be a more useful quantitative metric to assess anatomic loss of photoreceptors and decay of macular function.…”

“…They proved that the factors most strongly associated with retinal sensitivity are OCT lesion type and ONL thickness, with a trend toward sensitivity decay as vitelliform material was reabsorbed and subretinal fluid accumulated. 38 These observations may have a therapeutic implication: any intervention designed to preserve visual function must precede the flattening of the vitelliform material and formation of subretinal fluid, which marks a deterioration in retinal sensitivity.…”