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Study: BRCA1 gene mutations may not have clinical consequences

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Carriers of the BRCA1 gene mutation may be asymptomatic despite having dysfunction of rods, cones and inner retinal layers, a study found.

Researchers evaluated 15 unaffected patients with constitutional BRCA1 gene mutation using electroretinogram. Routine ophthalmic exams were also performed in the oldest, unaffected 15 patients and in 15 breast cancer patients who were carriers of the gene mutation.

BRCA1 carriers, even at old age or after treatment for breast cancer, did not present increased frequency of ophthalmic abnormalities when tested by electroretinogram.

The study is published in the May/June issue of Ophthalmic Research.