Ji Yong Woo, Ahn Hyunmin, Shin Kyoung-Jin, Kim Tae-Im, Seo Kyoung Yul, Stulting R Doyle, Kim Eung Kweon
Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin 16995, Korea.
Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea.
J Clin Med. 2022 May 28;11(11):3055. doi: 10.3390/jcm11113055.
Background: Mutations of the transforming growth factor-β-induced (TGFBI) gene produce various types of corneal dystrophy. Here, we report a novel de novo L509P mutation not located in a known hot spot of the transforming growth factor-β-induced (TGFBI) gene and its clinical phenotype, which resembles that of lattice corneal dystrophy type IIIA (LCD IIIA). Case presentation: A 36-year-old man (proband) visited our clinic due to decreased visual acuity with intermittent ocular irritation in conjunction with painful recurrent erosions in both eyes for 10 years. Molecular genetic analyses revealed a TGFBI L509P mutation (c.1526T>C) in the proband and one of his sons. Interestingly, neither TGFBI mutations nor corneal abnormalities were detected in either of the proband’s biological parents, indicating the occurrence of a de novo L509P mutation. Clinical examinations, including slit-lamp retro-illumination and Fourier-domain anterior segment optical coherence tomography (FD-OCT), revealed gray deposits in the anterior stroma and deeper refractile lines extending from limbus to limbus in both corneas of the proband, consistent with a diagnosis of LCD IIIA. Superficial diffuse haze and surface irregularity were observed in conjunction with corneal erosions and visual impairment, necessitating phototherapeutic keratectomy (PTK). A 60 μm PTK of the Bowman layer and anterior stroma of the proband’s left eye was performed following the removal of the epithelium in order to remove superficial corneal opacities. His BCVA improved from 20/400 to 20/50 at postoperative week 8 and was maintained for 45 months. Pinhole-corrected VA was 20/20 at the last visit, and corneal opacities had not recurred. Conclusions: An inheritable de novo mutation of L509P in the TGFBI gene can produce severe LCD IIIA, which can be successfully treated with OCT-guided PRK.
转化生长因子-β诱导（TGFBI）基因突变可导致多种类型的角膜营养不良。在此，我们报告一种新的从头发生的L509P突变，该突变不在转化生长因子-β诱导（TGFBI）基因的已知热点区域，及其临床表型，其类似于III型A晶格角膜营养不良（LCD IIIA）。病例报告：一名36岁男性（先证者）因视力下降、双眼间歇性眼刺激伴疼痛性复发性糜烂10年就诊于我院。分子遗传学分析显示先证者及其一个儿子存在TGFBI L509P突变（c.1526T>C）。有趣的是，先证者的生物学父母均未检测到TGFBI突变或角膜异常，表明发生了从头发生的L509P突变。包括裂隙灯后照法和傅里叶域眼前节光学相干断层扫描（FD-OCT）在内的临床检查显示，先证者双眼角膜前基质有灰色沉积物，从角膜缘到角膜缘有更深的折射线，符合LCD IIIA的诊断。同时观察到浅表弥漫性混浊和表面不规则，伴有角膜糜烂和视力损害，需要进行光治疗性角膜切除术（PTK）。在先证者左眼上皮去除后，对Bowman层和前基质进行了60μm的PTK，以去除浅表角膜混浊。术后8周，其最佳矫正视力（BCVA）从20/400提高到20/50，并维持了45个月。最后一次就诊时针孔矫正视力为20/20，角膜混浊未复发。结论：TGFBI基因中可遗传的从头发生的L509P突变可导致严重的LCD IIIA，可通过OCT引导的准分子激光原位角膜磨镶术（PRK）成功治疗。
