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

Federica Bertoli1,2, Silvia Pignatto1, Francesca Rizzetto3

  • 1Department of Medicine - Ophthalmology, University of Udine, Udine, Italy.

Case Reports in Ophthalmology
|January 29, 2019
PubMed

Insights

This study reports the youngest case of enhanced S-cone syndrome (ESCS) with choroidal neovascularization (CNV). Intravitreal ranibizumab injections successfully treated the condition, preserving vision.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Enhanced S-cone syndrome (ESCS) is a rare inherited retinal degeneration.
  • Choroidal neovascularization (CNV) can be a complication of ESCS.
  • Early diagnosis and treatment are crucial for managing vision loss in ESCS.

Observation:

  • A 5-year-old boy presented with subretinal lesions, subretinal fluid, and progressive vision loss.
  • Autofluorescence showed increased foci along the arcades.
  • Fluorescein angiography confirmed CNV in the right eye.

Findings:

  • The patient received intravitreal ranibizumab injections for CNV.
  • Significant visual improvement was observed post-treatment.
  • Genetic studies confirmed ESCS in the patient and siblings.

Implications:

  • This case highlights the youngest patient with ESCS and CNV.
  • Intravitreal ranibizumab is a potentially vision-saving treatment for CNV-complicated ESCS.
  • Further research into ESCS management is warranted.
Abstract

Keywords:
Anti-VEGFChoroidal neovascularizationElectroretinogramEnhanced S-cone syndromeNR2E3Ranibizumab

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