Impaired vision, autism linked to genetic disorder in New Zealand family

A genetic disorder that causes an inherited ocular condition, manifests itself more severely in males and may also cause autism, has been identified in a large family in New Zealand. The disorder has been traced back five generations in this family, affecting both genders, but it is more prevalent in the male family members.

Marion Maw and colleagues at the University of Otago found a “subtle alteration in a calcium channel gene that has profound effects on channel function,” according to a press release from the university. Other forms of damage to the same gene “cause a clinically related form of visual impairment called X-linked incomplete congenital stationary night blindness,” Dr. Maw said in the release. She added that scientists do not yet know how the damaged channel causes each of the clinical symptoms. j

The study has been under way since 1998, the university noted in its release.

Findings to date are published in the Proceedings of the National Academy of Sciences.