Inherited cataracts: Genetic mechanisms and pathways new and old.

ABSTRACT: Cataract(s) is the clinical equivalent of lens opacity and is caused by light scattering either by high molecular weight protein aggregates in lens cells or disruption of the lens microarchitecture itself. Genetic mutations underlying inherited cataract can provide insight into the biological processes and pathways critical for lens homeostasis and transparency, classically including the lens crystallins, connexins, membrane proteins or components, and intermediate filament proteins. More recently, cataract genes have been expanded to include newly identified biological processes such as chaperone or protein degradation components, transcription or growth factors, channels active in the lens circulation, and collagen and extracellular matrix components. Cataracts can be classified by age,

SUBMITTER: Shiels A 

PROVIDER: S-EPMC8595562 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature