SUMMARY
This paper presents the genetic counselling given to a visually deficient couple (Congenital Optical Atrophy X Rieger's Syndrome). Through the clinical history and traits, the diagnosis of Congenital Optical Atrophy with autosomal recessive inheritance and an insignificant risk of familial occurrence was arrived at.
The distribution of the individuals with Rieger's Syndrome in the family follows the autosomal dominant inheritance mode, with incomplete penetrance and irregular expression.
The probability that the couple or their descendents affected by the syndrome may pass on the gene is estimated at about 50%. It should be stressed that when estimating the risks involved (genetic counselling) the diagnosis is essential and the psychological aspects should, of course, be taken into consideration.