Coat’s like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options

Abstract

Leber congenital amaurosis is reported to be associated with multiple systemic and ocular findings, none of which is coat's like vasculopathy. CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. In this unique case we are reporting the incidence of coat's like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by CRB1 gene mutation, and its management. CRB1 mutant patients should be followed up closely as sudden progression can have permanent poor outcomes and as early management is vital in such cases.