Electroretinographic changes in eyes of patients with BRCA1 gene mutation

Aim: To assess the retinal function in BRCA1 gene mutation carriers and to evaluate the clinical significance of its potential alterations.

Patients and 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.

Conclusion: 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.