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eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
Bieżący numer Archiwum Filmy Artykuły w druku O czasopiśmie Suplementy Rada naukowa Recenzenci Bazy indeksacyjne Prenumerata Kontakt Zasady publikacji prac Opłaty publikacyjne Standardy etyczne i procedury
Panel Redakcyjny
Zgłaszanie i recenzowanie prac online
SCImago Journal & Country Rank
1/2005
vol. 107
 
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Artykuł oryginalny

Jakość życia chorych na choroideremię

Dorota Pojda-Wilczek
1
,
Ewa Herba
1
,
Stefan M. Pojda
1
,
Katarzyna Makowiecka-Obidzińska
1

  1. Katedra i Oddział Klinicznego Okulistyki Śląskiej Akademii Medycznej, Szpital Specjalistyczny nr 1 w Bytomiu
Klinika Oczna 2005, 107(1-3): 130-132
Data publikacji online: 2005/03/15
Pełna treść artykułu Pobierz cytowanie
 


Introduction
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
n 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.

słowa kluczowe:

choroideremia, elektroretinografia, elektrookulografia, jakość życia

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