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목적 : To describe the ophthalmological manifestations in patients with Leigh syndrome (LS).
방법 : A total of 44 patients (mean ages, 5.9 : 65.9% male) with LS were reviewed. Main outcome measures were to describe the incidence of ophthalmologic manifestations. We also investigate the association between magnetic resonance imaging (MRI) abnormalities and ophthalmologic phenotypes.
결과 : Of the 44 patients, 77.3% had at least 1 ocular abnormalities. Strabismus (40.9%) was the most frequently observed ophthalmologic manifestation in patients with LS, followed by pigmentary retinopathy (23.1%), optic atrophy (18.0%), nystagmus (13.6%), and eyelid ptosis (11.4%). Among these, 13 patients were exotropes, 5 had esotropes. Among 26 patients older than 4 years, 8 (30.8%) patients had better than 0.4 in the best eye was noted. Brainstem and thalamic abnormalities in MRI imaging were associated with the ptosis phenotype (Fisher’s exact test. P=0.0029 and P=0.019).
결론 : LS is the mitochondrial disorders with variable ophthalmologic manifestations, the most frequent being, strabismus. Patients suspected of LS should be examined regularly because ophthalmological features can be changed during their disease course.
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