Ishida Yuichiro, Koh Shizuka, Kaito Takashi, Nishida Kohji
Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.
Department of Innovative Visual Science, Osaka University Graduate School of Medicine, Osaka, Japan.
Case Rep Ophthalmol. 2018 Feb 9;9(1):138-142. doi: 10.1159/000486847. eCollection 2018 Jan-Apr.
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth. Although the existence of type II collagen has not been reported in the human corneal stroma, the aetiology of the opacity in the corneal stroma in SEDC type II collagenopathy is of interest.
一名13岁被诊断为先天性脊柱骨骺发育不良（SEDC）的日本女性被转诊进行眼科评估。裂隙灯和光学相干断层扫描检查显示双侧角膜薄，伴有弥漫性角膜混浊，位于中央角膜基质深层。与之前报道的两例SEDC中弥漫性和结节性角膜混浊病例不同，当前病例表现出一种罕见的角膜混浊形式。SEDC是II型胶原蛋白病之一，其特征为侏儒症，因为COL2A1基因突变会阻止骨骼生长。尽管尚未在人角膜基质中报道过II型胶原蛋白的存在，但II型胶原蛋白病SEDC中角膜基质混浊的病因仍值得关注。
