Abstract
Purpose :
To describe the transient development and resolution of foveomacular vitelliform lesions in ABCA4 disease.
Methods :
Patients were identified from a database of genetically confirmed biallelic ABCA4 disease (n=407). Longitudinal clinical data analysis included short-wavelength (SW-AF, 488-nm), and near-infrared (NIR-AF, 787-nm), spectral domain-optical coherence tomography (SD-OCT), OCT angiography (OCTA), electrooculogram and full-field electroretinogram (ffERG) recordings. Thickness of total retina, total receptor+ (TREC+), outer segment+ (OS+) and retinal pigment epithelium (RPE) layers were measured on horizontal SD-OCT scans and en face slabs of the inner segment ellipsoid (ISe) and RPE layers were derived from 97 raster scans.
Results :
Three patients (mean age 24.3 years) presented with moderate bilateral central vision loss. The common feature of ABCA4 genotypes in all three cases was the p.(Gly1961Glu) allele. SD-OCT showed focal disruptions of the ISe at the fovea resulting in a concave displacement of the overlying outer nuclear layer, resembling optical gap lesions. Large intraretinal hyperreflective foci (IHF) directly above the lesions, corresponding to yellow deposits on fundoscopy, were observed in P2 and P3. At initial presentation, the base of the optical gap lesions in P1 were filled with a dense, egg yolk-like, autofluorescent fluid. Resolution of the vitelliform fluid occurred in 3 months after which similarly-appearing IHF were detected on SD-OCT. EOG recordings were within normal limits (Arden ratio >1.8) and no generalized dysfunction was detected on ffERG. OCTA of the choriocapillaris revealed subfoveal visibility of large choroidal vessels. Total retina and RPE thicknesses were within the 95% confidence interval of healthy control eyes; significant thinning of TREC+ was observed within and in a 1 mm perimeter around the lesion. This abnormality spatially corresponded to a halo of abnormal reflectance in the ISe layer (en face OCT) and a homogeneously bright elliptical region on NIR-AF. Vitelliform material and IHF were no longer visible in the retina after 2 years in all eyes.
Conclusions :
Vitelliform lesions are rare, transient events associated with the p.(Gly1961Glu) allele of ABCA4. Early deterioration of the underlying choriocapillaris and formation of IHF may be contributing factors in the rapid resolution and rare incidence of vitelliform lesions in ABCA4 disease.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.