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05:14
Characterization of Vascular Morphology of Neovascular Age-Related Macular Degeneration by Indocyanine Green Angiography
Published on: August 11, 2023
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation
Maurizio Battaglia Parodi1, Umberto De Benedetto, Karl A Knutsson
1Department of Ophthalmology, University Vita-Salute, San Raffaele Scientific Institute, Milan, Italy.
European Journal of Ophthalmology
|July 26, 2011
Summary
This case report highlights that ABCA4 gene mutations can lead to bilateral choroidal neovascularization (CNV). Intravitreal ranibizumab offered temporary stabilization for CNV but long-term visual acuity preservation may require additional therapies.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Choroidal neovascularization (CNV) is a significant cause of vision loss.
- ABCA4 gene mutations are implicated in various retinal dystrophies.
Observation:
- A 52-year-old male with an ABCA4 gene mutation (G1961E) presented with bilateral CNV.
- The patient received intravitreal ranibizumab injections over a 30-month period.
- Visual acuity declined despite treatment, with final best-corrected visual acuity (BCVA) of 20/100 (RE) and 20/200 (LE).
Findings:
- The ABCA4 gene mutation was associated with bilateral, multiple CNVs.
- Intravitreal ranibizumab provided transient stabilization of CNV.
- Long-term treatment with ranibizumab did not prevent progressive vision loss.
Implications:
- ABCA4-associated CNV may require multifaceted treatment strategies.
- Further research into novel therapies for ABCA4-related retinal conditions is warranted.
- This case underscores the complexity of managing CNV in the context of genetic mutations.
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