己糖激酶1(HK1)基因是导致常染色体显性遗传性视网膜色素变性(RP)的79。迄今为止,只有E874K突变被报道为非综合征型RP患者的致病突变.最近报道了一例高加索RP病例,其HK1的病理变体表现为色素性静脉脉络膜萎缩(PPRCA)表型,我们回顾了日本RP队列中的RP79例。因此,2日本患者,在我们的RP队列中通过基因测试被诊断为RP79,包括在这项研究中。患者1是一名60岁的女性。眼底检查显示对称的甜甜圈形视网膜变性,色素沉积避免黄斑。此外,变性像海星一样沿着血管在外围方向延伸,在静脉和动脉周围观察到变性。患者2是一名75岁的男性。眼底检查显示避免对称黄斑的甜甜圈形视网膜变性,与病例1一样,沿血管旁突出变性。这两个日本案例,属于两个不同的家庭,有相同的HK1致病突变,具有PPRCA的表型。此外,沿视网膜动脉出现萎缩。回顾以前的非综合征性RP79病例,发现这些症状被认为是PPRCA的症状。超宽视野眼底成像,特别是超宽视野眼底自发荧光,在检测PPRCA方面很有用。如果这些设备变得广泛可用,由于PPRCA可作为怀疑RP79的线索,未来可能会发现更多病例,而Sanger测序可用于鉴定HK1中的致病性突变,成本更低,比使用全外显子组测序更容易.
Hexokinase 1 (HK1) gene is the cause of autosomal dominant retinitis pigmentosa (RP) 79. To date, only E874K mutation has been reported as the causative mutation in patients with nonsyndromic RP. As a Caucasian RP case with a pathological variant of HK1 exhibiting pigmented paravenous retinochoroidal atrophy (PPRCA) phenotype was recently reported, we reviewed RP79 cases in our Japanese RP cohort. Consequently, 2 Japanese patients, who were diagnosed with RP79 by genetic tests in our RP cohort, were included in this study. Patient 1 was a 60-year-old woman. Fundus examination revealed symmetrical donut-shaped retinal degeneration, with pigment deposition avoiding the macula. Moreover, degeneration extended in a peripheral direction along the vessels like a starfish, and degeneration was observed around the veins and arteries. Patient 2 was a 75-year-old man. Fundus examination revealed symmetric macula-avoiding donut-shaped retinal degeneration, with paravenous protruding degeneration along the blood vessels like in case 1. Both Japanese cases, which belonged to two separate families, had the same HK1 pathogenic mutation, with a phenotype of PPRCA. Furthermore, atrophy along retinal arteries was noted. Reviewing previous nonsyndromic RP79 cases revealed symptoms that are believed to be those of PPRCA. Ultra-widefield fundus imaging, especially ultra-widefield fundus autofluorescence, has been useful in detecting PPRCA. If these devices become widely available, more cases may be discovered in the future because PPRCA can be used as a clue to suspect RP79, and Sanger sequencing may be used to identify pathogenic mutations in HK1 at a lower cost and more easily than using whole-exome sequencing.