Egan Robert A, Weleber Richard G, Hogarth Penelope, Gregory Allison, Coryell Jason, Westaway Shawn K, Gitschier Jane, Das Soma, Hayflick Susan J
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland 97201, USA.
Am J Ophthalmol. 2005 Aug;140(2):267-74. doi: 10.1016/j.ajo.2005.03.024.
The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of the disorder. Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN.
Observational case series.
Sixteen patients with genetic and neuroimaging-confirmed PKAN were examined. Ten underwent neuro-ophthalmologic examination and all had ERGs.
Of the 10 who underwent neuro-ophthalmologic examination, all showed saccadic pursuits and eight showed hypometric or slowed vertical saccades. Seven of eight had inability to suppress the vestibulo-ocular reflex; two patients could not cooperate. Two had square wave jerks and four had poor convergence. Vertical optokinetic responses were abnormal in five, and two patients had blepharospasm. Eight patients had sectoral iris paralysis and partial loss of the pupillary ruff consistent with Adie's pupils in both eyes. Only four of 10 examined patients showed a pigmentary retinopathy, but 11 of 16 had abnormal ERGs ranging from mild cone abnormalities to severe rod-cone dysfunction. No patient had optic atrophy. The PANK2 mutations of all of the patients were heterogeneous.
Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits were very common. These findings suggest that mid-brain degeneration occurs in PKAN more frequently than previously thought. ERG abnormalities were present in approximately 70% and no patient had optic atrophy. Although genotype-ocular phenotype correlations could not be established, allelic differences probably contributed to the variable clinical expression of retinopathy and other clinical characteristics in these patients.
泛酸激酶相关神经变性（PKAN）发病于生命的第一个和第二个十年，色素性视网膜变性是该疾病的一个特征。由于神经眼科和视网膜电图（ERG）特征从未得到很好的描述，我们在16例PKAN患者中对其进行了描述。
观察性病例系列。
对16例经基因和神经影像学确诊的PKAN患者进行检查。10例接受了神经眼科检查，所有患者均进行了ERG检查。
在接受神经眼科检查的10例患者中，所有患者均表现出扫视跟踪，8例表现出垂直扫视幅度减小或速度减慢。8例中有7例无法抑制前庭眼反射；2例患者不配合。2例有方波急跳，4例集合功能差。5例垂直视动反应异常，2例有眼睑痉挛。8例患者有扇形虹膜麻痹和瞳孔缘部分缺失，双眼符合阿狄瞳孔。在接受检查的10例患者中只有4例表现出色素性视网膜病变，但16例中有11例ERG异常，范围从轻度视锥细胞异常到严重的视杆 - 视锥细胞功能障碍。没有患者出现视神经萎缩。所有患者的PANK2突变均为异质性。
类阿狄瞳孔、异常垂直扫视和扫视跟踪非常常见。这些发现表明PKAN中脑变性的发生比以前认为的更频繁。约70%的患者存在ERG异常，且无患者出现视神经萎缩。虽然无法建立基因型 - 眼部表型的相关性，但等位基因差异可能导致了这些患者视网膜病变和其他临床特征的可变临床表现。
