title: Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.
abstract: BACKGROUND
  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 lesions and secondary neovascularization successfully treated in a child with a course of bevacizumab. The genetic testing has implications on genetic counseling in such patients and the genetic analysis of all such patients ought to be routinely considered.
authors.affiliation: a Leicester Royal Infirmary, Medical Retina Department, University Hospitals of Leicester , UK.
authors.forename: Rumana N
authors.initials: RN
authors.lastname: Hussain
authors.forename: Fatema L
authors.initials: FL
authors.lastname: Shahid
authors.forename: Theodoros
authors.initials: T
authors.lastname: Empeslidis
authors.forename: Soon Wai
authors.initials: SW
authors.lastname: Ch'ng
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use*; D000075002:Bestrophins; D000068258:Bevacizumab / Q000627:therapeutic use*; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D020256:Choroidal Neovascularization / Q000188:drug therapy* / Q000235:genetics; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D058449:Intravitreal Injections; D020641:Polymorphism, Single Nucleotide; D012164:Retinal Diseases / Q000235:genetics*; D041623:Tomography, Optical Coherence; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity / Q000502:physiology
chemical_list: D020533:Angiogenesis Inhibitors; C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab
keywords: Bestrophinopathy; bevacizumab; choroidal neovascular membrane