目的:本文的目的是描述临床非典型疾病的成功诊断和治疗,单边,小儿患者的凝胶状滴落样角膜营养不良(GDLD)。
方法:本研究为病例报告。
结果:一名7岁的日本女孩因右侧角膜混浊被转诊到我们的诊所超过3年。夹灯检查显示白色,突出,角膜中央旁混浊,表面不规则,基质晶格微小,上皮下混浊。未观察到倒脓或上睑,患者的右矫正视力(CDVA)为18/20。对侧角膜完整,但显示荧光素摄取。8个月后,右侧CDVA从18/20恶化至6/20,并进行角膜上皮刮除.组织病理学分析显示上皮下层和前角膜基质中的淀粉样结节被刚果红染色,手术后两个月复发,怀疑角膜营养不良。基因组DNA的分离和测序揭示了纯合的p.Gln118Ter。患者和杂合p.Gln118Ter中TACSTD2的突变。父母双方的突变。诊断为GDLD;第一次角膜刮擦后,规定双侧使用治疗性软性隐形眼镜。在4.5年内,右眼不需要额外的手术干预。在此期间,对侧左眼的CDVA已成功维持在30/20,未出现结节性病变或角膜混浊。
结论:我们遇到了一位患者,非典型GDLD,使用基因组DNA测序明确诊断。GDLD应该是单侧患者鉴别诊断的一部分,复发性淀粉样蛋白沉积.
OBJECTIVE: The purpose of this article was to describe the successful diagnosis and management of clinically atypical, unilateral, gelatinous drop-like corneal dystrophy (GDLD) in a pediatric patient.
METHODS: This study was a
case report.
RESULTS: A 7-year-old Japanese girl was referred to our clinic with right corneal opacity for over 3 years. Slitlamp examination revealed a white, protruding, paracentral corneal opacity with an irregular surface and tiny stromal lattice figures with subepithelial opacities. No trichiasis or epiblepharon was observed, and the patient\'s right corrected distance visual acuity (CDVA) was 18/20. The contralateral cornea was intact but demonstrated fluorescein uptake. After 8 months, the right CDVA worsened from 18/20 to 6/20, and corneal epithelial scraping was performed. Histopathological analysis revealed amyloid nodules in the subepithelial layer and in the anterior corneal stroma stained with Congo red, which reoccurred 2 months after the procedure, and corneal dystrophy was suspected. Isolation and sequencing of the genomic DNA revealed a homozygous p.Gln118Ter. mutation in TACSTD2 in the patient and heterozygous p.Gln118Ter. mutations in both parents. GDLD was diagnosed; bilateral use of therapeutic soft contact lenses was prescribed after the first corneal scraping. No additional surgical intervention was required for the right eye for 4.5 years. CDVA of the contralateral left eye has been successfully maintained at 30/20 over this period, without emergence of nodular lesions or corneal opacities.
CONCLUSIONS: We encountered a patient with early, atypical GDLD, who was definitively diagnosed using genomic DNA sequencing. GDLD should be a part of the differential diagnosis in patients presenting with unilateral, recurrent amyloid deposition.