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Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights

Authors :
Piero Barboni
Chiara La Morgia
Maria Lucia Cascavilla
Eun Hee Hong
Marco Battista
Anna Majander
Leonardo Caporali
Vincenzo Starace
Giulia Amore
Antonio Di Renzo
Michele Carbonelli
Paolo Nucci
Neringa Jurkute
Benson S. Chen
Roberta Panebianco
Anna Maria De Negri
Federico Sadun
Vincenzo Parisi
Francesco Bandello
Alfredo A. Sadun
Valerio Carelli
Patrick Yu-Wai-Man
Source :
American journal of ophthalmology.
Publication Year :
2022

Abstract

To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON) to gain a better understanding of the factors influencing the visual outcome in this atypical form of the disease.Retrospective cohort study.We retrospectively included two cohorts of LHON patients with onset of visual loss before the age of 12 years old from Italy and the United Kingdom. Ophthalmological evaluation, including best-corrected visual acuity, orthoptic evaluation, slit-lamp biomicroscopy, visual field testing and optical coherence tomography (OCT) were considered. Patients were classified based both on the age of onset and the pattern of visual loss.68 PATIENTS WERE STRATIFIED BASED ON THE AGE OF ONSET OF VISUAL LOSS: GROUP 1 (3YRS): : 14 patients (20.6%); Group 2 (≥ 3 -9yrs): 27 patients (39.7%); and Group 3 (≥ 9 - ≤ 12yrs): 27 patients (39.7%). Patients in Group 2 achieved a better visual outcome compared with those in Group 3. Patients in Group 1 and Group 2 had better mean deviation on visual field testing compared with those in Group 3. The mean ganglion cell layer thickness on OCT was higher in Group 2 compared with those in Group 1 and Group 3. Patients were also categorized based on the pattern of visual loss as: Subacute Bilateral: 54 patients (66.7%); Insidious Bilateral: 14 patients (17.3%); Unilateral: 9 patients (11.1%); and Subclinical Bilateral: 4 patients (4.9%).Children who lose vision from LHON before the age of 9 years old have a better visual prognosis compared with those who become affected in later years, likely representing a "form frustre" of the disease.

Subjects

Subjects :
Ophthalmology

Details

ISSN :
18791891
Database :
OpenAIRE
Journal :
American journal of ophthalmology
Accession number :
edsair.doi.dedup.....15628c04012bf822d5dde55087202e5e