Dysfunkcja siatkówki w oczach pacjentek z mutacją genu BRCA1

Introduction
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.