Use

Cataracts are opacities of the lens that block or scatter light and may occur due to protein accumulation or developmental defects. They present congenitally or later and can accompany other ocular abnormalities such as microphtalmia and glaucoma. Genetic testing helps identify causative variants, distinguishes isolated from syndromic forms, informs prognosis, guides surgical and genetic counseling decision-making, and enables carrier testing for family members.