Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.
Arch Soc Esp Oftalmol (Engl Ed). 2022 Dec;97(12):714-718. doi: 10.1016/j.oftale.2022.08.007. Epub 2022 Nov 4.
Kjellin's syndrome is a rare autosomal recessive hereditary neuro-ophthalmologic syndrome. The diagnosis of Kjellin's syndrome is based on the retinal appearance in a patient with spastic paraplegia, learning difficulties, amyotrophy and thin corpus callosum. We present the case of a 42-years-old man without visual symptoms, referred to study from the Neurology Service due to a degenerative condition. On ophthalmologic examination is found a multifocal pattern dystrophy simulating fundus flavimaculatus and a delay in the visual evoked potential responses. The performed tests are reviewed and a genetic analysis for subtypes 11 and 15 of hereditary spastic paraplegia are requested. These subtypes are associated with macular changes. A pathogenic variant in the SPG 11 gene is identified, which explains the patient's clinical manifestations. Ophthalmological findings were key in the diagnosis of this rare syndrome.
Kjellin 综合征是一种罕见的常染色体隐性遗传性神经眼科学综合征。Kjellin 综合征的诊断基于痉挛性截瘫、学习困难、肌肉萎缩和胼胝体变薄患者的视网膜表现。我们报告了一例 42 岁男性的病例，该男性无视觉症状，因退行性疾病从神经病学服务处转来进行研究。眼科检查发现多发性模式营养不良，类似于眼底黄斑病变，并出现视觉诱发电位反应延迟。对所进行的检查进行了回顾，并要求进行遗传性痉挛性截瘫亚型 11 和 15 的基因分析。这些亚型与黄斑变化有关。在 SPG11 基因中发现了一个致病变异，解释了患者的临床表现。眼部发现是诊断这种罕见综合征的关键。
