Medical overview
Family stories
Medical advisory board

Raphaela (13) and Roberto (23) live with their parents, Regina and Renato, and older brother, Rodrigo, in Brazil. 

Roberto developed cataracts at the age of three years.   As a child he had low tone, balance problems, and used a walker.  In his teenage years he required surgery for scoliosis (curvature of the spine) and foot problems.  Roberto now walks a little around the house and uses a wheelchair for traveling long distances.  He receives physical therapy three times weekly.  He is 1.57 meters (62 inches) tall.  He completed high school, currently takes a computer science course, and is trying to decide what to with his future. 

Raphaela’s cataracts appeared at four years of age.  She used a walker when she was young, but now walks almost independently, holding hands for longer distances.  She is about 1.30 meters (51 inches tall).  Raphaela receives physical therapy three times weekly for strength, flexibility, and motor coordination, hoping to prevent the scoliosis that affected her brother.  She is progressing physically and at school.  Neither Raphaela nor Roberto has hypogonadism.