Retinal dysfunction in eyes of patients with BRCA1 gene mutation

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 (01+02+03+04) (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.