Macular dystrophy associated with Kjellin’s syndrome: a case report

Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

遗传性痉挛性截瘫（Hereditary spastic paraplegia, HSP）以双下肢无力与痉挛为主要临床表现。凯尔林综合征（Kjellin’s syndrome）是一类与HSP相关的罕见综合征，其特征为双侧视网膜出现斑点状损害，影像学表现与斯塔加特病（Stargardt disease）及眼底黄色斑点症（fundus flavimaculatus）相似。本文报告1例34岁男性患者，该患者完全表现出凯尔林综合征的全部临床特征，通过多模态成像（光谱域光学相干断层扫描[SD-OCT]、近红外反射成像及自发荧光成像）观察到典型的视网膜病变表现。该疾病早期的眼部改变通常不会损害视力，因此视网膜中央变性的检出需依赖细致全面的眼底检查。