Summary

Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait