Elsevier

Ophthalmology

Volume 112, Issue 1, January 2005, Pages 120-126
Ophthalmology

Original article
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

Presented in part at: Association for Research in Vision and Ophthalmology Meeting, April, 2004; Fort Lauderdale, Florida.
https://doi.org/10.1016/j.ophtha.2004.06.034Get rights and content

Design

Cross-sectional study.

Participants and/or controls

Thirty-eight patients with LHON were analyzed and compared with an age-matched control group of 75 patients. Patients with LHON were classified as having early LHON (E-LHON, n = 8) when the duration of the disease was shorter than 6 months and atrophic LHON (A-LHON, n = 30) when the duration was longer than 6 months.

Methods

The fast RNFL thickness (3.4) scan acquisition protocol was used.

Main outcome measure

Retinal nerve fiber layer thickness as measured by StratusOCT.

Results

Compared with the control group, eyes with E-LHON showed a thicker RNFL in the 360° average measurement (P<0.01) and in the superior (P<0.01), nasal (P<0.05), and inferior quadrants (P<0.05); no significant changes were detected in the temporal quadrant. Eyes with A-LHON revealed a thinner RNFL in all measurements (P<0.001); the fibers of the nasal quadrant showed the lowest amount of reduction (38% vs. 42%–49.8% in the other quadrants). In cases with A-LHON and visual recovery, RNFL was significantly thicker in all measurements (P<0.001), except the temporal quadrant, with respect to A-LHON without visual recovery.

Conclusions

On the basis of OCT data, the RNFL is thickened in E-LHON and severely thinned in A-LHON. RNFL is likely to be partially preserved in A-LHON with visual recovery. The temporal fibers (papillomacular bundle) are the first and most severely affected; the nasal fibers seem to be partially spared in the late stage of the disease.

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.

References (29)

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The authors have no commercial interests related to this article.

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