Use of Intravitreal Bevacizumab in a 9-year-old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy

AbstractIntroduction: Bestrophinopathies result from mutations within the BEST1 gene; although multiple gene mutations have been identified, the recessive form is often the form which gives rise to the rarer complication of choroidal neovascularization. We describe a child with treated choroidal neovascularization secondary to Best disease with a newly identified genetic mutation.Methods: Case report.Results: A 9-year-old child reported unilateral blurred vision; the acuity deteriorated over the following months to 3/18 due to the development of a choroidal neovascular membrane. She was treated with three injections of bevacizumab with recovery to 6/12 vision and no subsequent recurrence over the follow-up period of 2 years, and no secondary complications from the drug. Genetic analysis revealed a novel heterozygous mutation in the BEST1 gene, with no evidence of disease in the family.Conclusions: We describe a novel mutation within the BEST1 gene of the heterozygous form giving rise to vitelliform lesion...