Stoyanova Nina, Imran Abdulrahman, Hassan Zain Ul, Kraev Krasimir, Basheva-Kraeva Yordanka, Kraeva Maria, Uchikov Petar, Novakova Plamena, Vasilev Veselin, Minev Ivaylo, Hristov Bozhidar, Koleva-Georgieva Desislava, Petrov Petko, Dimov Luboslav, Dermendzhiev Svetlan, Atanassov Marin
Department of Ophthalmology, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.
Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria.
Life (Basel). 2025 Mar 6;15(3):409. doi: 10.3390/life15030409.
Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by bilateral corneal opacification due to abnormal cholesterol and phospholipid deposition. Mutations in the UBIAD1 gene, identified as causative in 2007, underline the condition, although its exact pathogenesis remains unclear.
A 55-year-old female presented with persistent photophobia, blepharospasm, and corneal discomfort. She also reported joint pain related to rheumatoid arthritis (RA), managed with Ro-Actemra (tocilizumab). The ophthalmological evaluation revealed bilateral corneal stromal deposits resembling snowflakes, with visual acuities of 0.8 (right eye) and 0.7 (left eye). Multimodal imaging confirmed stromal hyperreflective deposits. Based on the clinical findings, SCD was diagnosed, although no genetic testing was performed. Symptomatic management with artificial tears was initiated.
This case illustrates the diagnostic challenges of SCD, particularly in the absence of corneal crystals, a hallmark feature that is not universally present. Advanced imaging techniques aided diagnosis, and the coexistence of SCD and RA highlights the need for multidisciplinary care. Treatment options remain limited, although emerging therapies targeting oxidative stress and lipid metabolism show promise.
This case highlights the importance of integrating ophthalmological and systemic care in SCD management and underscores the need for further research to expand diagnostic and therapeutic strategies for this rare disorder.
施奈德角膜营养不良（SCD）是一种罕见的常染色体显性疾病，其特征是由于胆固醇和磷脂异常沉积导致双侧角膜混浊。2007年确定UBIAD1基因突变是该病的病因，尽管其确切发病机制仍不清楚。
一名55岁女性出现持续性畏光、眼睑痉挛和角膜不适。她还报告了与类风湿性关节炎（RA）相关的关节疼痛，使用托珠单抗（Ro-Actemra）治疗。眼科检查发现双侧角膜基质沉积物类似雪花，右眼视力为0.8，左眼视力为0.7。多模态成像证实了基质高反射性沉积物。根据临床表现，诊断为SCD，尽管未进行基因检测。开始使用人工泪液进行对症治疗。
该病例说明了SCD的诊断挑战，特别是在没有角膜晶体的情况下，角膜晶体是一个并非普遍存在的标志性特征。先进的成像技术有助于诊断，SCD与RA的共存突出了多学科护理的必要性。尽管针对氧化应激和脂质代谢的新兴疗法显示出前景，但治疗选择仍然有限。
该病例强调了在SCD管理中整合眼科和全身护理的重要性，并强调需要进一步研究以扩大针对这种罕见疾病的诊断和治疗策略。
