Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation

PURPOSE. To describe a case of ABCA4 gene mutation (G1961E) associated with bilateral choroidal neovascularization (CNV) treated with intravitreal ranibizumab injections. METHODS. A 52-year-old man with bilateral CNV associated with ABCA4 gene mutation underwent complete ophthalmologic examination over a 30-month follow-up and was treated with intravitreal ranibizumab injections on an as-needed basis. RESULTS. Baseline best-corrected visual acuity (BCVA) was 20/32 in the right eye (RE) and 20/63 in the left eye (LE). Two small CNVs with juxtafoveal location were detectable in the RE, whereas a single subfoveal CNV was visible in the LE. Overall, 6 and 9 intravitreal ranibizumab injections were administered in RE and LE, respectively, during the 30-month follow-up. At the end of the follow-up, BCVA was 20/100 in the RE and 20/200 in the LE. CONCLUSIONS. This case report reveals that ABCA4 gene mutation may be complicated by multiple and bilateral CNVs. Intravitreal injection of ranibizumab can achieve temporary CNV stabilization, but cannot guarantee complete quiescence over a long-term follow-up. Other therapeutic approaches could be necessary to accomplish visual acuity preservation.