Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

Objective: The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation.

Methods: Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination.