[Quality of life in patients suffering from choroideremia]. / Jakosc zycia chorych na choroideremie.

PURPOSE: To direct attention on every-day problems in choroideremia, which are not a barrier in patients occupation. MATERIAL AND METHODS: Two cases of patients with choroideremia which was diagnosed when they were 30 and 54 are described. In spite of widespread visual field changes patients with good visual acuity did not have to change their lifestyles or their jobs (miner and mechanic). Visual acuity, visual field, mesoptometry, adaptometry, electroretinography, electrooculography were done. The mother of the younger patient was also examined. Her fundus of the eye showed typical changes for carriers. In the older patient's family among 41 family members 7 men were affected in 3 generations. Follow-up was 6 years. RESULTS: In ERG rod activity was very low or abolished and cone activity was reduced, more in older patient. In the younger patient visual acuity and mesoptometry were normal, rod adaptation was very low. The patient was able to work as a miner due to good mesopic vision. In follow-up no significant progression of the disease was observed. The older patient had previously been treated for retinitis pigmentosa for a few years. Diagnosis of choroideremia was made when visual acuity of the patient declined. It was impossible to perform mesoptometry and adaptometry because of advanced night blindness. In the dark room the patient found it very difficult to move. In follow-up lowering of the visual acuity, progression of visual field as well as electroretinographic changes occurred. CONCLUSIONS: Patients with choroideremia may be professionally engaged despite of every-day problems connected with widespread scotomas in visual field and nyctalopia. They should not become pensioners too early. The disease progression is faster in older than in younger patients.

Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.

Genetic counselling endeavours to be nondirective. However, the availability of prenatal diagnosis may direct clients towards accepting and using these methods. It is time to investigate the attitudes of clients in order to monitor the psychological and social effects of new genetic techniques. As prenatal diagnosis was possible for choroideremia (C), but not for retinitis pigmentosa (RP) in 1988-89, we used a questionnaire to compare the attitudes of C and RP patients, their relatives and C carriers to prenatal diagnosis. The response rate was low (35%) and no significant differences between RP and C groups came to light. However, C carriers accepted prenatal diagnosis and also selective abortion more easily, but, on the other hand, they showed more uncertainty than did the other groups. This indicates that the availability of prenatal diagnosis may confuse those concerned. In general, about 60% of all the respondents had a positive attitude to the prenatal diagnosis of RP or choroideremia, though only about 30% would use if for abortion. Over 80% of all the respondents wanted to know the opinion of the genetic counsellor.