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Digit J Ophthalmol. 2013 Dec 30;19(4):59-63. doi: 10.5693/djo.02.2013.09.001. eCollection 2013.

Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy.

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St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.


A 26-year-old white woman presented with a 1-year history of reduced vision in both eyes, bilateral yellowish deposits in the central macula, and pale yellow retinal flecks extending to midretinal periphery. Choroidal neovascularization (CNV) was confirmed in her left eye. On optical coherence tomography, both eyes showed diffuse intraretinal cystic spaces, thickening and separation of the photoreceptor layer from the retinal pigment epithelium (RPE), subretinal fluid, and focal thickening at the level of the RPE at the fovea. A diagnosis of autosomal recessive bestrophinopathy was confirmed by electrodiagnostic and molecular genetics testing. The CNV responded well to intravitreal ranibizumab therapy, and visual acuity in the left eye improved and stabilized; however, retinoschisis due to fluctuations in intraretinal fluid persisted. This case highlights the fact that current optical coherence tomography-driven protocols used widely to treat neovascular age-related macular degeneration may not be appropriate for CNV associated with other retinal diseases.

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