Abstract
Purpose :
Progression of photoreceptor degeneration and retinal pigment epithelial (RPE) atrophy are the primary cause of functional loss in inherited macular dystrophies (IMD). Automated detection of photoreceptor degeneration and RPE atrophy would be helpful to analyze the natural course of IMD and provide relevant information for future treatment options.
Methods :
Volume scan macular OCT (49 scans, 5,5x5,5 mm, Heidelberg Engineering, Germany) of 158 patients with genetically confirmed IMD were analyzed using the GA Monitor (RetInSight, Vienna, Austria) outside its intended use. All patients were examined at least once with OCT, fundus and near-infrared autofluorescence. In 74 patients one or more follow-up OCTs were available.
Results :
IMD were associated with different genes (ABCA4: 70, PRPH2: 26, BEST1: 17, RS1: 14, RP1L1: 10 and several rare genes). In total, 859 OCTs could be analyzed of 310 eyes. Photoreceptor degeneration and RPE atrophy were reliably detected. In comparison with fundus autofluorescence OCT-based detection of RPE atrophy was superior especially in foveal and parafoveal areas. The analysis of progression was possible in 139 eyes of 74 patients with a time range between 1 and 12 years. The rate of progression varied between associated genes, but also between patients with the same associated gene. Photoreceptor degeneration preceded RPE atrophy, and during progression RPE atrophy developed in areas with prior photoreceptor degeneration.
Conclusions :
AI-based identification of photoreceptor degeneration and RPE atrophy facilitates a detailed analysis of disease stage and progression. The natural course of the IMD can be monitored and the results can be used for patient counselling as well as future treatment planning.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.