Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence

Abstract

Purpose To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4-Stargardt disease (STGD) and correlate this data with functional outcome measures. Design Retrospective cross sectional study Setting Kellogg Eye Center, University of Michigan Study population Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. Observational procedures The UWF-FAF images were obtained using Optos 200-degrees and classified into three types. Functional testing included: kinetic widefield perimetry, full-field electroretinogram (ffERG) and visual acuity (VA). All results were evaluated with respect to UWF-FAF classification. Main outcome measures Classification of UWF-FAF; area comprising the I4e, III4e, and IV4e isopters; ffERG patterns; and VA. Results For UWF-FAF, 27 subjects (41.5%) were classified as type I; 17 (26.2 %) as type II; and 21 (32.4%) as type III. The area of each isopter correlated inversely with the extent of the disease and all isopters were able to detect differences among UWF-FAF types (IV4e, p = 0.0013; III4e, p = 0.0003; I4e, p < 0.0001= 3.93e−8). ffERG patterns and VA were also different among the three UWF-FAF types (p < 0.001= 6.61e-6 and p < 0.001= 7.3e−5, respectively). Conclusion Patients with widespread disease presented with more constriction of peripheral visual fields, had more dysfunction on ffERG and worse VA compared to patients with disease confined to the macula. UWF-FAF images may provide information for estimating peripheral and central visual function in STGD.

Ultra-widefield retinal imaging: an update on recent advances

“…With UWF-FAF and UWF ICGA, new insights into the extent of choroidal vessel hyperpermeability have been appreciated in the pachychoroid clinical spectrum of diseases. 62 The use of UWF-FAF has also been studied in retinal and choroidal dystrophies, including gyrate atrophy, 63 Stargardt disease, 64 and retinitis pigmentosa. 65,66 In addition to DR and RVOs, UWF-FA has also been useful in diagnosing and managing other retinal vascular pathologies including sickle cell retinopathy and radiation retinopathy ( Figure 5).…”

Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes

“…Studied STGD donors received a diagnosis of STGD based on the age of each subject at the initial ocular evaluation validating a typical macular pathology involving atrophy of perifoveal and foveal regions [ 38 , 39 ]. Clinical presentation of STGD ranges from early-onset loss of the foveal region expanding to the peripheral retina over time to late-onset mild cases of central retinal atrophy.…”

Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies

“…To assess the extent of retinal degeneration, UWF‐FAF was used as it has been shown to be a valid tool to visualize the degree of peripheral and central retinal degeneration in the ABCA4‐RDs (Oishi et al 2014; Abalem et al 2017).…”