Amy Pai1, Kamron Khan2, Kaoru Fujinami2, Michel Michaelides2,3

Purpose: To present a case series of molecularly confirmed ABCA4 retinopathy patients with choroi- dal neovascular membranes (CNVM) from Moor- field’s Eye Hospital.
Methods: A retrospective data search was con- ducted using our electronic medical records. CNVM was diagnosed based on clinical examinations and retinal imaging modalities including fundus fluores- cein angiography (FFA) and optical coherence tomography (OCT)-Angiography.
Results: We found 618 patients with molecularly confirmed ABCA4 mutations from 2000 to 2017, of whom 4 had CNVM during the follow up period. They were offered Anti-vascular endothelial growth factor (Anti-VEGF) injections. Five eyes of 4 patients were included. At the time of presentation, the ages were 8, 39, 57, and 57 years. Starting visual acuities (VA) in the CNVM affected eyes were 6/9, 6/18, 6/36, 6/36, 6/76 (mean 6/21) and their respective VA at the last consultation were 6/6, 6/24, 6/24, 6/36, 6/76 (mean 6/18). The mean follow up period was 41 months and the number of injections received per eye ranged from 4 to 19. One patient was not treated with Anti-VEGF injections due to the location and spontaneous regression of the CNVM.

Conclusions: In our cohort, we found the incidence of CNVM in patients with ABCA4 retinopathy was low (0.65%). We present OCT, FFA, and OCT- Angiography findings in our patients. Anti-VEGF injections helped these patients with an inherited ret- inal dystrophy and CNVM, and a few patients were able to maintain pre treatment VA. This is one of the few case series of CNVM in patients with molecularly confirmed ABCA4 associated retinopathy.