LENScience
Insight into Blindness
Good eyesight is something all parents hope for their children. For one branch of a large New Zealand whanau who are descendents from Spanish whaler, José Manuel, the chance of a newborn child being vision impaired is very high. Five generations of the family have been plagued by blindness.
José Manuel deserted from a whaling ship in the 1830’s and went to live with a Maori tribal community in the East Cape of Aotearoa-New Zealand.
He took multiple wives (as was normal for this community) and now over a 180 years later has more than 10,000 descendents. In one branch of this whanau, more than 40 of the family who are alive today are either blind or have extremely poor vision.
Their vision may be so bad that they can hardly distinguish between light and dark. While having a serious vision impairment makes life very challenging, for some members of the whanau there is an additional inherited challenge. As well as their vision problems, a number of the boys in more recent generations are affected by intellectual disabilities and autism.
Dr Marion Maw, a geneticist from the Department of Biochemistry at the University of Otago studying molecular genetics of inherited disorders of the retina was a part of the team of scientists who worked with this whanau to help discover why so many of them suffer from blindness and vision impairment.
Seminar paper for "Insight into blindness: exploring inheritance patterns" (2.4 MB, PDF)
Pre-seminar paper for "Insight into blindness : exploring inheritance patterns" (526.8 kB, PDF)
Challenge questions for "Insight into blindness: exploring inheritance patterns" (142.4 kB, PDF)
