autosomal recessive bestrophinopathy

Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy primarily caused by variants in the BEST1 gene. This condition manifests as central visual loss typically occurring within the first two decades of life, and is characterized by an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). The inheritance pattern is autosomal recessive, meaning that both copies of the gene in each cell have mutations. Due to its extreme rarity, with a prevalence of less than 1 in 1,000,000, comprehensive clinical studies and documentation are limited.

The limited documentation surrounding autosomal recessive bestrophinopathy reflects its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity hinders the ability to conduct extensive clinical studies and gather systematic data. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the condition and its manifestations.

Currently, there are no orphan drugs designated for autosomal recessive bestrophinopathy. However, there is one active clinical trial that may provide insights into potential treatments or management strategies. For more information on this trial, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=autosomal%20recessive%20bestrophinopathy.