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.