Answer to blindness hidden in the genes

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

{{ reviewsTotal }}{{ options.labels.singularReviewCountLabel }}
{{ reviewsTotal }}{{ options.labels.pluralReviewCountLabel }}
{{ options.labels.newReviewButton }}
{{ userData.canReview.message }}
skin microbiome x final

Infographic: Could gut bacteria help us diagnose and treat diseases? This is on the horizon thanks to CRISPR gene editing

Humans are never alone. Even in a room devoid of other people, they are always in the company of billions ...
glp menu logo outlined

Newsletter Subscription

* indicates required
Email Lists
glp menu logo outlined

Get news on human & agricultural genetics and biotechnology delivered to your inbox.