Original articleRetinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy
Section snippets
Subjects
All patients with a molecularly confirmed diagnosis of LHON referred to the University of Bologna between 1990 and 2002 were invited to participate in this study. Exclusion criteria were presence in 1 or both eyes of any retinal disease and/or optic nerve disease other than LHON and unusual presentation of LHON, such as cases with only 1 eye affected and those with a slowly progressive course of the disease. Asymptomatic family members with or without subclinical signs were not included in this
Results
We collected 38 patients with LHON for this study, 8 of whom were classified as E-LHON and 30 as A-LHON (Table 1). The mean age was not significantly different among the groups considered. Disease duration, stratification by gender or mtDNA mutation, and rates of visual recovery for individuals with LHON are also reported in Table 1. Most patients had the 11778 mutation (58%), whereas 3460 and 14484 mutations represented 31% and 11% of the sample, respectively. Table 1 also reports the data
Discussion
In recent years, OCT has proven a reliable technology to assess peripapillary RNFL thickness.14, 15, 16 To date, RNFL analysis by OCT has been successfully applied in patients with ocular hypertension and glaucoma.17, 18, 19
Our study, which used the StratusOCT, is the first large-scale investigation of RNFL thickness in patients with LHON. The results of these objective measurements better define the clinical features of LHON, which were previously described only by fundus examination.
Acknowledgments
The authors thank Alfredo A. Sadun, MD, for reviewing the manuscript and helpful discussion.
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Manuscript no. 240176.
The authors have no commercial interests related to this article.