Jesus-Ribeiro Joana, Farinha Cláudia, Amorim Margarida, Matos Anabela, Reis Aldina, Lemos João, Castelo-Branco Miguel, Januário Cristina
Department of Neurology, Coimbra University Hospital Center, Coimbra, Portugal.
Department of Ophthalmology, Coimbra University Hospital Center, Coimbra, Portugal.
Br J Ophthalmol. 2018 Jan;102(1):102-108. doi: 10.1136/bjophthalmol-2017-310181. Epub 2017 May 9.
BACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I.
Cross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography.
Seven patients with a mean BCVA of 0.12±0.14 logMAR were included. Only two patients showed structural evidence of advanced retinopathy in OCT and FAF, and there were no cases of optic atrophy. ERG data, however, showed abnormal scotopic and/or photopic responses in all patients. VEP were normal in all three patients. Ocular fixation was markedly unstable (eg, increased rate of saccadic pulses) in the majority of patients (5). Additional mild ocular motor disturbances included low gain pursuit (2), hypermetric saccades (1), low gain optokinetic (2) and caloric and rotatory responses (3).
Functional retinal changes associated with marked instability of ocular fixation should be included in the clinical spectrum of NBIA, particularly in the atypical form.
背景/目的：I型脑铁沉积神经变性病（NBIA）是一种罕见疾病，可根据发病年龄和临床模式分为经典型或非典型型。经典型NBIA已有神经眼科受累的记录，但非典型型仅有个别病例报道。我们旨在描述I型非典型NBIA患者的视觉和眼球运动功能。
横断面研究，纳入基因确诊为I型NBIA且分类为非典型型的患者，对其进行眼科检查，包括最佳矫正视力（BCVA）、光学相干断层扫描（OCT）、眼底自发荧光（FAF）、视网膜电图（ERG）、视觉诱发电位（VEP）和视频眼震图检查。
纳入7例患者，平均BCVA为0.12±0.14 logMAR。仅2例患者在OCT和FAF检查中有视网膜病变的结构证据，且无视神经萎缩病例。然而，ERG数据显示所有患者的暗视和/或明视反应均异常。3例患者的VEP均正常。大多数患者（5例）的眼球注视明显不稳定（如扫视脉冲频率增加）。其他轻度眼球运动障碍包括低增益跟踪（2例）、过强扫视（1例）、低增益视动反应（2例）以及冷热和旋转反应（3例）。
与眼球注视明显不稳定相关的功能性视网膜改变应纳入NBIA的临床谱，尤其是非典型型。
