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Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy
Sandra Hoyek1, Lisa Y Lin1, Lindsay Klofas Kozek1
1Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Proceedings (Baylor University. Medical Center)
|June 27, 2022
Summary
Best vitelliform macular dystrophy (BVMD) can cause consecutive bilateral choroidal neovascularization (CNV). A novel BEST1 gene variant was identified, highlighting its role in this progressive macular disease.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Best vitelliform macular dystrophy (BVMD) is a genetic macular disorder.
- It is caused by pathogenic variants in the Bestrophin (BEST1) gene.
- Diagnosis involves clinical examination, multimodal imaging, and genetic testing.
Observation:
- A 12-year-old girl presented with decreased vision and bilateral "egg-yolk" macular lesions.
- She developed choroidal neovascularization (CNV) in both eyes sequentially.
- Her father, with a similar BEST1 variant, was misdiagnosed with toxoplasmosis.
Findings:
- Genetic testing revealed a novel heterozygous c.851A>G (p.Tyr284Cys) variant in the BEST1 gene.
- The patient's vision improved from 20/125 to 20/20 in the right eye after anti-VEGF treatment.
- This is the first report of consecutive bilateral CNV secondary to BVMD.
Implications:
- This case highlights the potential for bilateral consecutive CNV in BVMD.
- The identified BEST1 variant is likely pathogenic.
- Accurate genetic testing is crucial for diagnosing BVMD and guiding treatment.
