Abstract
We report a rare case of autosomal recessive bestrophinopathy (ARB) in India, where multimodal imaging and genetic analysis were done. Optical coherence tomography revealed a thickened Verhoeff’s membrane in both eyes and genetic analysis revealed a homozygous missense mutation in exon 4. To the best of our knowledge, this is the first case of ARB in India where genetic analysis has been done.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
