医学
Leber遗传性视神经病
视力
视野
视神经病变
回顾性队列研究
亚临床感染
眼科
矫形的
队列
发病年龄
儿科
疾病
外科
视神经
斜视
内科学
作者
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 Jurkutė,Benson Chen,Roberta Panebianco,Anna Maria De Negri,Federico Sadun,Vincenzo Parisi,Francesco Bandello,Alfredo A. Sadun,Valerio Carelli,Patrick Yu‐Wai‐Man
标识
DOI:10.1016/j.ajo.2022.12.014
摘要
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 2 cohorts of patients with LHON with onset of visual loss before the age of 12 years from Italy and the United Kingdom. Ophthalmologic evaluation, including best-corrected visual acuity, orthoptic evaluation, slit-lamp biomicroscopy, visual field testing, and optical coherence tomography, was considered. Patients were classified based on both the age of onset and the pattern of visual loss.A total of 68 patients were stratified based on the age of onset of visual loss: group 1 (<3 years): 14 patients (20.6%); group 2 (≥3 to <9 years): 27 patients (39.7%); and group 3 (≥9 to ≤12 years): 27 patients (39.7%). Patients in group 2 achieved a better visual outcome than those in group 3. Patients in groups 1 and 2 had better mean deviation on visual field testing than those in group 3. The mean ganglion cell layer thickness on optical coherence tomography in group 2 was higher than those in groups 1 and 3. Patients were also categorized based on the pattern of visual loss as follows: 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 have a better visual prognosis than those who become affected in later years, likely representing a "form frustre" of the disease.
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