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Case Reports
. 2018 Dec 21;9(3):510-515.
doi: 10.1159/000495743. eCollection 2018 Sep-Dec.

A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab

Federica Bertoli  1   2 , Silvia Pignatto  1 , Francesca Rizzetto  3 , Paolo Lanzetta  1
Affiliations
Case Reports

A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab

Federica Bertoli et al. Case Rep Ophthalmol. .

Abstract

Introduction: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections.

Case report: A 5-year-old boy presented with round-shaped fibrotic subretinal lesions in both eyes with surrounding subretinal fluid and progressive visual deterioration in the right eye. Fine foci of increased autofluorescence were observed along the arcades in both eyes. Fluorescein angiography revealed the presence of CNV in his right eye, and treatment with ranibizumab was initiated, with significant improvement in vision. Subsequent electroretinogram examination and genetic studies of the patient and his two younger siblings confirmed the diagnosis of ESCS.

Conclusion: CNV has been reported to occur in different inherited retinal degenerations, including ESCS. Our experience confirms that treatment with ranibizumab in patients with CNV-complicated ESCS can be potentially vision-saving.

Keywords: Anti-VEGF; Choroidal neovascularization; Electroretinogram; Enhanced S-cone syndrome; NR2E3; Ranibizumab.

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Figures

Fig. 1
Fig. 1
Color fundus photography (a), fundus autofluorescence imaging (b), fluorescein angiography (c), and OCT images (d) of the patient in May 2011 (right eye in the upper line, left eye in the lower line).
Fig. 2
Fig. 2
Color fundus photography (a) and OCT images (b) of the patient in the right eye after two ranibizumab injections.
Fig. 3
Fig. 3
Color fundus photography (a) and OCT images (b) of the patient in 2018 (right eye in the upper line, left eye in the lower line).
See this image and copyright information in PMC

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