Yen Busra, Ciftci Mukaddes Damla, Afrashi Filiz, Onay Huseyin, Goksen Damla
Faculty of Medicine, Ege University, Izmir, Turkey.
Department of Ophthalmology, Faculty of Medicine, Ege University, Izmir, Turkey.
Retin Cases Brief Rep. 2025 May 1;19(3):413-417. doi: 10.1097/ICB.0000000000001578.
Alström syndrome is a rare autosomal recessive monogenic ciliopathy, which is caused by a mutation of the Alström syndrome 1 gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss, and retinal degeneration. In this study, we aimed to report a novel variant in Alström syndrome 1 gene causing Alström syndrome in a patient presenting with visual impairment.
This was a case report.
A 10-year-old male patient presented with photophobia and visual impairment in both eyes. Anterior and posterior segment examinations were unremarkable bilaterally. Optical coherence tomography showed attenuated ellipsoid zone. Electroretinography revealed diminished cone and rod responses consistent with cone-rod dystrophy. Genetic testing demonstrated a novel homozygous variant in Alström syndrome 1 (NM_015120.4) gene. The patient also was found to have early stage dilated cardiomyopathy through systemic evaluation after the diagnosis of Alström syndrome.
Cone-rod dystrophy in pediatric population is relatively rare condition that can be associated with syndromic ciliopathies. The authors presented a case of Alström syndrome with a novel variant in Alström syndrome 1 gene based on ophthalmic findings. Ophthalmologists play an important role in the diagnosis of this syndrome and early detection of systemic manifestations.
阿尔斯特伦综合征是一种罕见的常染色体隐性单基因纤毛病，由阿尔斯特伦综合征1基因的突变引起。它是一种多系统疾病，其特征为胰岛素抵抗、儿童期肥胖、心肌病、进行性肝肾功能衰竭、感音神经性听力损失和视网膜变性。在本研究中，我们旨在报告1例因阿尔斯特伦综合征1基因新变异导致视力损害患者的阿尔斯特伦综合征。
这是一例病例报告。
一名10岁男性患者出现畏光及双眼视力损害。双眼眼前节和后节检查均无明显异常。光学相干断层扫描显示椭圆体带变薄。视网膜电图显示视锥和视杆反应减弱，符合视锥视杆营养不良。基因检测显示阿尔斯特伦综合征1（NM_015120.4）基因存在一种新的纯合变异。在诊断阿尔斯特伦综合征后，通过系统评估还发现该患者患有早期扩张型心肌病。
儿童人群中的视锥视杆营养不良是一种相对罕见的疾病，可能与综合征性纤毛病相关。作者基于眼科检查结果报告了1例携带阿尔斯特伦综合征1基因新变异的阿尔斯特伦综合征病例。眼科医生在该综合征的诊断及全身表现的早期检测中发挥着重要作用。
