Beyond what the eye can see.

Beyond what the eye can see.

Surv Ophthalmol. 2016 Feb 24;

Authors: Ahmad KE, Fraser CL, Sue CM, Barton JJ

Abstract
A 45 year old woman presented with acute sequential optic neuropathy resulting in bilateral complete blindness. No significant visual recovery occurred. Past medical history was relevant for severe pre-eclampsia with resultant renal failure, diabetes mellitus, and sudden bilateral hearing loss when she was. There was a family history of diabetes mellitus in her mother. Testing for common causes of bilateral optic neuropathy did not reveal a diagnosis for her illness. The maternal history of diabetes, and personal history of diabetes and deafness prompted testing for mitochondrial disease. The three primary mitochondrial DNA mutations responsible for Leber Hereditary Optic Neuropathy (LHON), but the patient was subsequently found to have a disease causing mitochondrial DNA mutation, m.13513G>A. The case illustrates the importance of early testing for mitochondrial disease, and demonstrates that LHON like presentations may be missed if testing is limited to the three primary mutations.

PMID: 26921807 [PubMed - as supplied by publisher]

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