CASE HISTORY
A 31-year-old male had been diagnosed as a carrier of the LHON 11778 mutation after familial genetic testing prompted by a relative’s diagnosis of LHON. His maternal uncle had become blind at age 28 following a course of antibiotic therapy, possibly compounded by other behavioural and environmental exposures including excess alcohol intake and passive smoking. Our patient had not experienced any visual loss.
Localised testicular cancer was diagnosed in our patient following investigations for infertility. In 2016, a left sided testicular mass was identified on scrotal ultrasound. Staging imaging showed no evidence of metastatic disease. A left orchidectomy was performed with histopathology demonstrating 45mm (pT1) pure seminoma without lympho-vascular invasion and no rete testis involvement. Adjuvant chemotherapy was discussed but due to the low risk of recurrence and concern regarding chemotherapy induced conversion of LHON, the patient instead chose to undergo active surveillance.