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NR 1-3/2005
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Jakość życia chorych
na choroideremię
Life quality in patients
suffered from choroideremia
Dorota Pojda-Wilczek, Ewa Herba, Stefan
M. Pojda, Katarzyna Makowiecka-Obidzińska
Z Katedry i Oddziału Klinicznego Okulistyki Śląskiej Akademii
Medycznej, Szpital Specjalistyczny nr 1 w Bytomiu
Kierownik: prof. dr hab. n. med. Stefan M. Pojda |
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| Summary: |
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. |
| Słowa kluczowe: |
choroideremia,
elektroretinografia, elektrookulografia, jakość życia. |
| Key words: |
choroideremia,
electroretinography, electrooculography, life quality. |
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