Electroretinographic changes in eyes of patients with BRCA1 gene mutation.
OBJECTIVE
To assess the retinal function in BRCA1 gene mutation carriers and to evaluate the clinical significance of its potential alterations.


METHODS
Flash electroretinogram (ERG) was studied in 15 unaffected patients (30 eyes) with constitutional BRCA1 gene mutation. Routine ophthalmological examination was additionally performed in the oldest, unaffected 15 patients and in 15 breast cancer patients being carriers of BRCA1 mutation.


RESULTS
In ERGs, in the maximal response, a-wave (p < 0.03) and b-wave (p < 0.05) amplitudes were reduced. In the cone single-flash response, the amplitude of a-wave (p < 0.007) was also reduced. In the oscillatory potentials (OPs), increased amplitude of OP2 (p < 0.03), and increased latencies of OP3 (p < 0.0009) and OP4 (p < 0.03) were obtained. BRCA1 carriers even at old age or after treatment of breast cancer have not presented increased frequency of abnormalities detectable by routine ophthalmological examination.


CONCLUSIONS
It can be hypothesized that dysfunction of rods, cones and inner retinal layers is present in asymptomatic carriers of BRCA1 gene mutation; however, this does not have clinical consequences.
Lubiński
Wojciech
W
Clinic of Ophthalmology, Pomeranian Academy of Medicine, Technical University of Szczecin, Szczecin, Poland. lubinski@pro.onet.pl
Górski
Bogdan
B
Szych
Zbigniew
Z
Penkala
Krzysztof
K
Palacz
Olgierd
O
Lubiński
Jan
J
D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000503:physiopathology; D016022:Case-Control Studies; D004594:Electrophysiology; D004596:Electroretinography / Q000379:methods*; D005123:Eye / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008564:Membrane Potentials / Q000502:physiology; D008875:Middle Aged; D009154:Mutation
D019313:BRCA1 Protein