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Related Experiment Video

Updated: Sep 8, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Best Vitelliform Macular Dystrophy.

Justin Cheong¹, Stephen H Tsang², Tarun Sharma³

¹Vagelos College of Physicians and Surgeons, New York, NY, USA.

Advances in Experimental Medicine and Biology

|July 30, 2025

Summary

This summary is machine-generated.

Autosomal recessive bestrophinopathy (ARB) is caused by a complete lack of functional bestrophin-1 protein. This condition arises from two mutations in the BEST1 gene, one on each chromosome.

Keywords:

Autosomal recessive Best vitelliform macular dystrophy

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Last Updated: Sep 8, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

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Published on: May 26, 2023

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Published on: November 15, 2015

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

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Published on: January 12, 2022

Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal disorder.
It is characterized by the absence of functional bestrophin-1 protein.

Purpose of the Study:

To elucidate the genetic basis of Autosomal recessive bestrophinopathy.
To understand the molecular consequences of BEST1 mutations.

Main Methods:

Genetic analysis of patients with ARB.
Molecular characterization of the bestrophin-1 protein.

Main Results:

Identified two mutations in the BEST1 gene in affected individuals.
Confirmed the complete absence of functional bestrophin-1 protein.

Conclusions:

Two BEST1 mutations, one on each chromosome, lead to a total absence of functional bestrophin-1 protein.
This deficiency is the underlying cause of Autosomal recessive bestrophinopathy.