Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.

ABSTRACT:

Background/objectives

REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).

Subjects/methods

Demographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time.

Results

44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutati

SUBMITTER: Yu-Wai-Man P 

PROVIDER: S-EPMC8956580 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature