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Ophthalmic Genet. 2015;36(3):265-9. doi: 10.3109/13816810.2014.962706.

Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.

Author information

1
a Leicester Royal Infirmary, Medical Retina Department, University Hospitals of Leicester , UK.

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.

KEYWORDS:

Bestrophinopathy; bevacizumab; choroidal neovascular membrane

PMID:
25265375
DOI:
10.3109/13816810.2014.962706
[Indexed for MEDLINE]

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