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Rare eye disease strikes one Dutch family only

Half of its 200 members effected

Tags: Excerpts from the Windmill

NIJMEGEN, the Netherlands - Half of a group of well over 200 people in the Netherlands who can trace their roots to a 1700 common ancestor is afflicted by an as yet incurable eye disease that effects this family only. Some 100 males and females in this unnamed family suffer from a genetic anomaly called macula edema, for which specialists now try to find a cure.

The disease strikes indiscriminately across gender lines in this family and manifests itself in young people between the ages of ten and twenty. The disease results in an accumulation of fluids in the so-called macula lutea (’yellow spot’) of the retina and cannot be reversed in this family because of the genetic background. Macula edema in patients outside this family sometimes can be treated however.

Eye specialists first discovered the ‘origin’ of the family’s affliction a few years ago when four seemingly unrelated patients came to seek help at the same University Medical Center in Nijmegen. One physician started genealogical research into the family and discovered as well that its ancestors also were afflicted with macula edema. Specialists hope that genetic therapy will help to prevent more young people in this family from developing the genetic eye disease.