A maculopathy associated with the 15257 mitochondrial DNA mutation
K. L. Heher and D. R. Johns
Department of Ophthalmology, Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine, Baltimore, Md.
OBJECTIVE: 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. RESULTS:
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. CONCLUSIONS:
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.
