Jasmine Carrero has big doelike eyes, an almond-shaped face and a willowy frame that she calls boyish. She also has Stickler syndrome, a group of genetic disorders whose hallmarks are these elongated features; it is responsible not just for the elegant tapering fingers possessed by nearly everyone in her family, but also for the family’s history of blindness.
Those with Stickler syndrome injure easily, particularly in delicate areas. When Timothy was 4, he appeared to have pinkeye; he had in fact suffered a retinal detachment after bumping into a coffee table, and had, like Ms. Carrero’s father, gone blind in one eye. Genetic testing revealed, for the first time, the source of the family’s longstanding history of optical travails: Stickler.
Read the full, original story here: Answer to Blindness Was Hidden in the Genes