ALCOHOL AND SMOKING-INDUCED OPTIC NEUROPA THY VERSUS LEBERS HEREDITARY OPTIC NEUROPATHY - A PITFALL DIAGNOSTIC

A 39 year-old patient suffered bilateral painless visual loss while co nsuming abusively alcohol and cigarettes. Family history was remarkabl e for a similar episode in the patient's brother 21 years ago, while d rinking and smoking heavily. A diagnosis of toxic optic neuropathy was made in another institution, but due to the positive family history, mitochondrial DNA was studied for point mutations associated with Lebe r's hereditary optic neuropathy. A homoplasmic mutation at nucleotide 11778 was found. The patient's brother could not be studied. This case emphasizes the probable deleterious effects of epigenetic factors suc h as alcohol and cigarette smoke in patients harbouring mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy and the need for mitochondrial DNA studies in atypical cases of optic neur opathy.