|Principal Investigator: Nicola Longo|
|Keywords: bilateral cataracts , CTX||Department: Pediatric Genetics|
|IRB Number: 00090396|
|Specialty: Ophthalmology, Pediatric, Pediatric Genetics|
|Sub Specialties: Pediatric Strabismus, Medical Genetics|
|Recruitment Status: Recruiting|
The purpose of this study is to understand better how many people who have been diagnosed with early-onset idiopathic bilateral cataracts may have a rare but treatable disease called Cerebrotendinous Xanthomatosis (CTX). CTX is disease where people do not make bile acids normally. In people who have CTX, one of the first signs of the disease is often cataracts from an unknown cause, at an early age. We and the sponsor (Retrophin) would like to learn what signs and symptoms of CTX people who have cataracts from an unknown cause may have. This will help doctors in the future find and diagnose CTX earlier.