July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Natural History Data (NHD) In A Cohort Of 383 Patients with Leber’s Hereditary Optic Neuropathy (LHON). Results From An International Retrospective Case Record Survey (CRS)
Author Affiliations & Notes
  • Magda Silva
    Santhera Pharmaceuticals, Liestal, Switzerland
  • Xavier Lloria
    Santhera Pharmaceuticals, Liestal, Switzerland
  • Claudia Catarino
    Friedrich-Baur-Institute, Munich, Germany
  • Thomas Klopstock
    Friedrich-Baur-Institute, Munich, Germany
  • Jose A. Sahel
    European Vision Institute Clinical Research Network (EVICR), Paris, France
    Institut de la Vision, Paris, France
  • Footnotes
    Commercial Relationships   Magda Silva, None; Xavier Lloria, None; Claudia Catarino, None; Thomas Klopstock, None; Jose Sahel, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3362. doi:
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      Magda Silva, Xavier Lloria, Claudia Catarino, Thomas Klopstock, Jose A. Sahel; Natural History Data (NHD) In A Cohort Of 383 Patients with Leber’s Hereditary Optic Neuropathy (LHON). Results From An International Retrospective Case Record Survey (CRS). Invest. Ophthalmol. Vis. Sci. 2018;59(9):3362.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : LHON is a mitochondrial disorder resulting in progressive, bilateral, severe central vision loss. Due to its rarity, NHD originates from many series of limited number of subjects. There is no international registry, either. Here, we report the NHD data from an international multicentre medical record survey of patients with LHON. Previous partial data was presented elsewhere.

Methods : Case report forms (CRFs) were used to record data from available medical records from patients diagnosed with LHON in 11 centres worldwide. No exclusion criteria were applied. Demographic data, mutation status, date of onset of each eye as well as visual assessments were tabulated for all available data from all patients (CRS population).

Results : 383 CRFs were collected with a total of 2400 visual acuity (VA) measurements in 286 idebenone-naïve patients. Visits occurred between 1950 and 2014. Age at onset [years, median (range)]: 23.0 (4.0-78.0) (unknown in 14); 61.4% between 15 and 35y. Gender: male 77.0% (unknown in 6 patients). Mutation: 66.8% G11778A, 17% G3460A, 11.7% T14484C, 0.5% unknown and 3.9% rare mutations. Type of presentation: bilateral simultaneously 56.9% patients; difference in sequential onset was 0.5 months in 75% of the patients (maximum 42 years). Data from different subgroups will be presented.

Conclusions : This study provides a new insight into LHON as a disease over time as well as of its natural history in treatment-naïve patients.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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