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Glossary

  • Sclera: The part of the eye around the colored pupil commonly referred to as "the whites of the eyes." Some, not all, people with OI appear to have a blue, purple or gray tint to their sclera. The color may range from barely noticeable to very dark and may change with age.
  • Spontaneous Mutation: This is a change in a gene that occurs without an obvious cause, in a family where there is no history of the particular gene mutation. OI is inherited as an autosomal dominant trait. Approximately 35% of cases have no family history and are called "sporadic" cases. In sporadic cases, OI is believed to result from a spontaneous new mutation.