|
NR 10-12/2005
|
|
|
|
|
|
|
|
|
Retinal dysfunction
in eyes of patients with BRCA1 gene mutation
Dysfunkcja siatkówki w
oczach pacjentek z mutacją genu BRCA1
Wojciech Lubiński1, Bohdan
Górski2, Zbigniew Szych3, Krzysztof
Penkala4, Olgierd Palacz1, Jan Lubiński2
1Clinic of Ophthalmology, Pomeranian Medical
University, Szczecin, Poland
Head: prof. dr hab. n. med. Danuta Karczewicz
2International Hereditary Cancer Center, Department
of Genetics and Pathology, Pomeranian Academy of Medicine,
Szczecin, Poland
Head: prof. dr hab. n. med. Jan Lubiński
3Department of Hygiene and Epidemiology, Pomeranian
Academy of Medicine, Szczecin, Poland
Head: drof. dr hab. n. med. Alicja Walczak
4Institute of Electronics, Telecommunications and
Information Technology, Technical University of Szczecin, Poland
Head: dr hab. Ewa Weinert-Rączka |
|
|
| Summary: |
Purpose: To assess
the retinal function in BRCA1 gene mutation carriers.
Material and methods: Thirty unaffected patients
(60 eyes) with constitutional BRCA1 gene mutation were
studied. Flash ERG recordings were performed in
accordance with the International Society for Clinical
Electrophysiology of Vision (ISCEV) standards.
Results: In ERGs, in the maximal response,
amplitude of a-wave (p<0.02) was reduced. In the cone
single- flash response, the amplitude of a-wave (p<0.04)
was also reduced. In the scotopic oscillatory potentials
(OPs), we noted: increased amplitude of OP2 (p<0.0006),
increased index of OP amplitude (O1+O2+O3+O4) (p<0.04),
and increased latencies of OP1 (<0.05) and OP3 (p<0.004)
and OP4 (p<0.03).
Conclusions: Slight dysfunction of rods, cones
and inner retinal layers is present in asymptomatic
carriers of BRCA1 gene mutation. |
| Słowa kluczowe: |
mutacja genu BRCA1,
siatkówka, ERG błyskowy. |
| Key words: |
BRCA1 gene mutation,
retina, flash ERG. |
|
|
|
|
|
|
