First Author: A.Pai AUSTRALIA
Co Author(s): K. Khan K. Fujinami M. Michaelides
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To present a case series of patients with molecularly confirmed ABCA4 retinopathy and choroidal neovascular membranes (CNVM).
Moorfields Eye Hospital, City Road, London, UK
A retrospective data search combining keywords ABCA4, Stargardt, and CNVM was conducted using our electronic medical records system (OpenEyesTM) and patient files. CNVM was diagnosed based on clinical examinations and retinal imaging modalities including fundus fluorescein angiography (FFA), optical coherence tomography (OCT), and OCT-Angiography (Zeiss AngioplexTM).
We found 618 patients with molecularly confirmed ABCA4 mutations from 2000 to 2017, of whom 4 had developed CNVM during the follow up period. Patients with CNVM were offered treatments with anti-vascular endothelial growth factor (anti-VEGF) injections including Pegaptanib, bevacizumab, and ranibizumab. Four eyes of these four patients were treated. Their ages at the time of presentation were 8, 39, 57 and 57 years (mean 40.25). Their presenting visual acuities (VA) in the CNVM affected eyes were 6/9, 6/18, 6/36, 6/36, 6/76 (median 0.17 6/36, mean 0.28 6/21) and their respective VA at the last consultation were 6/6, 6/24, 6/24, 6/36, 6/76 (median 0.25 6/24, mean 0.35 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 the spontaneous regression of the CNVM.
In our cohort, we found the incidence of CNVM in patients with ABCA4 retinopathy was low (0.65%). We present OCT, OCT-Angiography, and FFA findings in our patients. Anti-VEGF injections are of some benefit in these patients in stopping CNVM progression and in maintaining pre treatment VA. This is one of the few case series of CNVM in patients with confirmed ABCA4 associated retinopathy.