Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. (3rd July 2015)

• Record Type: Journal Article
• Authors: Hussain, Rumana N.; Shahid, Fatema L.; Empeslidis, Theodoros; Ch'ng, Soon Wai
• Is Part Of: Ophthalmic genetics. Volume 36:Number 3(2015:Sep.)
• Page Start: 265
• Page End: 269
• Publication Date: 2015-07-03
• Subjects: Bestrophinopathy -- bevacizumab -- choroidal neovascular membrane; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.962706
• Languages: English
• ISSNs: 1381-6810

Abstract

Abstract: Introduction : 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.