Department of Ophthalmology, Mustafa Kemal University Tayfur Ata Sökmen Faculty of Medicine, Hatay, Turkey.
Nepal J Ophthalmol. 2020 Jan;12(23):110-113. doi: 10.3126/nepjoph.v12i1.26185.
Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant, anterior stromal dystrophy described as progressive bilateral corneal opacification due to abnormal accumulation of cholesterol and phospholipids in the cornea. The clinical signs can change as the patient ages. SCD with different presentations may actually be misdiagnosed. Early diagnosis would help to rule out other potentially sight threatening or treatable conditions like infectious keratitis or drug toxicity.
We present a case of a 34-year-old Syrian male patient, came to our clinic for bilateral decreased visual acuity for 5 years. His visual acuity was 0.15 in both eyes. Slitlamp examination revealed corneal arcus or disk-like lesion and polychromatic crystalline depositions in both eyes in subepithelial and the anterior 1/3 of the stroma. The mild onset of arcus lipoides was also seen. Central corneal thickness results were 507 μm in the right eye and 503 μm in the left eye. A diagnosis of Schnyder corneal dystrophy was thought based on clinical presentation and coexistence dyslipidemia of the patient.
Ophthalmologists should keep in mind SCD and its associated systemic findings that need to be evaluated and managed properly.
施奈德角膜营养不良（SCD）是一种罕见的常染色体显性遗传的前基质营养不良，表现为双侧角膜混浊进行性加重，其原因是角膜中胆固醇和磷脂异常积聚。随着患者年龄的增长，临床体征可能会发生变化。具有不同表现的 SCD 实际上可能会被误诊。早期诊断有助于排除其他可能威胁视力或可治疗的疾病，如感染性角膜炎或药物毒性。
我们报告了一例 34 岁的叙利亚男性患者，因双眼视力下降 5 年来我院就诊。他的双眼视力均为 0.15。裂隙灯检查显示双眼角膜弓状或盘状病变，上皮下和基质前 1/3 存在多色结晶沉积。也可见轻度脂性弧。右眼中央角膜厚度为 507μm，左眼为 503μm。根据临床表现和患者存在血脂异常，考虑诊断为施奈德角膜营养不良。
眼科医生应牢记 SCD 及其相关的系统性表现，需要进行适当的评估和管理。
