Two relatives, a 61-year-old man and the 21-year-old grandson of his sister, suffered from bilateral visual loss and were diagnosed with Leber hereditary optic neuropathy. In both cases, the diagnosis was molecularly confirmed with the 11778 mitochondrial mutation. MRI showed increased T2 signal not only in the optic nerves and chiasm but also in the optic tracts, extending to the lateral geniculate bodies. To our knowledge, the latter finding has not been described previously.
Department of Neuroradiology (DvW), Center for Medical Imaging and Physiology, Skåne University Hospital, Lund, Sweden; Department of Diagnostic Radiology (DvW), Lund University, Lund, Sweden; and Neuro-Ophthalmology Unit, Department of Ophthalmology (BH, GB), Skåne University Hospital, Lund, Sweden.
Supported by the Skåne County Research and Development Council, the Swedish Research Council, Kronprinsessan Margaretas Arbetsnämnd för synskadade (Crown Princess Margareta's Foundation for the Visually Handicapped), Synskadades Väl i Östergötland, and Carmen och Bertil Regnérs fond (Carmen and Bertil Regnérs Foundation) and Lund University Hospital funds.
Conflict of interest: None.
Address correspondence to Danielle van Westen, MD, PhD, Department of Radiology, Lund University Hospital, SE-221 85 Lund, Sweden; E-mail: firstname.lastname@example.org