Leber Hereditary Optical Neuropathy: clinical and genetic characteristics

Abstract

Purpose: Leber Hereditary Optical Neuropathy (NOHL) is an optical neuropathy related to a point mutation in the mitochondrial DNA of maternal inheritance. The purpose of this study is to describe the clinical and genetic profile of patients diagnosed with Leber's hereditary optic neuropathy (LHON) at Centro Hospitalar de São João (CHSJ).

Material and Methods: Retrospective analysis of patients with genetic diagnosis followed in the Ophthalmology Department at CHUSJ.

Results: Were included 11 patients (20 eyes), most of them male (63.6%). The mean age at presentation was 19.0 ± 10.1 years. The most frequent mutation was G11778A (n= 8, 72.7%). Heteroplasmy was detected in one patient. The mean best corrected visual acuity was 0.95 ± 0.43 logMAR. The most common finding in fundoscopy was optic disc pallor. The most common visual field defect was cecocentral scotoma. Neuroimaging was normal in most patients. However, in two patients was detected hyper-signal in the posterior region of the optic nerves and white matter changes in one patient.

Conclusion: The clinical and genetic characteristics of this study are in agreement with other caucasian populations. On the other hand, some data from our study, suggest that the phenotype of this pathology may be influenced by epigenetic phenomena not yet fully understood.