To report a new retinal finding associated with the mitochondrial DNA mutation at nucleotide position 15257, a primary mutation associated with Leber's hereditary optic neuropathy.
Design and Patients:
Clinical and historical data were collected for 24 visually symptomatic patients from 20 independent pedigrees with the 15257 mutation.
Fundoscopic examination in three patients who presented with acute, bilateral visual loss revealed retinal pigment epithelial changes in the maculae accompanied by normal-appearing optic discs. The conditions of two of these patients were initially diagnosed as Stargardt's disease, and subsequent molecular genetic analysis revealed the presence of the 15257 mutation. The third patient underwent molecular genetic analysis several months after presenting with a presumed maculopathy. Two of the patients also demonstrated evidence of a concurrent optic neuropathy.
The association of macular changes with Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation has not been previously reported. The mitochondrial DNA mutation at nucleotide position 15257 may cause a maculopathy as well as the typical optic neuropathy usually seen in Leber's hereditary optic neuropathy. A subset of patients whose conditions were diagnosed as Stargardt's disease may harbor a mitochondrial DNA mutation. These three cases illustrate the importance of molecular genetic testing in some atypical cases of optic neuropathies and maculopathies.
Heher KL, Johns DR. A Maculopathy Associated With the 15257 Mitochondrial DNA Mutation. Arch Ophthalmol. 1993;111(11):1495-1499. doi:10.1001/archopht.1993.01090110061024