A MACULOPATHY ASSOCIATED WITH THE 15257 MITOCHONDRIAL-DNA MUTATION

Objective: To report a new retinal finding associated with the mitocho ndrial DNA mutation at nucleotide position 15257, a primary mutation a ssociated with Leber's hereditary optic neuropathy. Design and Patient s: Clinical and historical data were collected for 24 visually symptom atic patients from 20 independent pedigrees with the 15257 mutation.Re sults: Fundoscopic examination in three patients who presented with ac ute, bilateral visual loss revealed retinal pigment epithelial changes in the maculae accompanied by normal-appearing optic discs. The condi tions of two of these patients were initially diagnosed as Stargardt's disease, and subsequent molecular genetic analysis revealed the prese nce of the 15257 mutation. The third patient underwent molecular genet ic analysis several months after presenting with a presumed maculopath y. Two of the patients also demonstrated evidence of a concurrent opti c neuropathy. Conclusions: The association of macular changes with Leb er's hereditary optic neuropathy-associated mitochondrial DNA mutation has not been previously reported. The mitochondrial DNA mutation at n ucleotide position 15257 may cause a maculopathy as well as the typica l 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 ill ustrate the importance of molecular genetic testing in some atypical c ases of optic neuropathies and maculopathies.