Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-12-01 DOI:10.1080/13816810.2024.2434038

Rumi Adachi, Jun Shoji, Kentaro Yuda, Toshiki Shimizu, Yusuke Hara, Akiko Tomioka, Noriko Inada, Takahiko Hayashi, Satoru Yamagami

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Abstract

Background: Corneal dystrophies (CDs) significantly affect quality of life. However, their progression and characteristics remain unclear. This study aimed to report a case of a unilateral variant of lattice corneal dystrophy (LCD) with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta-induced (TGFBI) gene.

Case presentation: A 39-year-old Japanese woman presented with ocular pain and decreased visual acuity in the left eye. A slit-lamp examination of her left cornea revealed recurrent corneal erosion complicated by contact lens-associated infectious keratitis, fine lattice lines, and central corneal haze in the anterior stroma, with no opacities in the right cornea. In vivo confocal microscopic examination of the right eye showed highly reflective branching filaments in the corneal stroma, whereas the left cornea was unremarkable. Based on these clinical findings, we diagnosed the patient with unilateral LCD. The molecular genetic analysis revealed the TGFBI: a c.1501C>A (p.P501T) variant in exon 11 and the c.1733T>C (p.L578P) variant in exon 13.

Conclusion: A 39-year-old female patient with LCD with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) TGFBI variants exhibited unilateral corneal findings, including recurrent corneal erosion, fine lattice lines, and central corneal haze in the anterior stroma. The study's findings could benefit CD treatment.

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单侧格子状角膜营养不良伴转化生长因子- β诱导基因C . 1501c >A （p.P501T）和C . 1733t >C （p.L578P）变异1例报告

背景：角膜营养不良（CDs）显著影响生活质量。然而，它们的进展和特征仍不清楚。本研究旨在报道一例转化生长因子- β诱导（TGFBI）基因中C . 1501c > a （p.P501T）和C . 1733t >C （p.L578P）单侧变异的晶格性角膜营养不良（LCD）。病例介绍：一名39岁的日本女性，因左眼疼痛和视力下降而就诊。左角膜裂隙灯检查发现复发性角膜糜烂并伴有隐形眼镜相关性感染性角膜炎，细格纹，前基质角膜中央浑浊，右角膜无混浊。体内共聚焦显微镜检查右眼角膜基质中可见高反射的分支细丝，而左角膜无明显反射。根据这些临床表现，我们诊断患者为单侧LCD。分子遗传学分析显示，TGFBI: C . 1501c > a （p.P501T）变异位于第11外显子，C . 1733t >C （p.p 578p）变异位于第13外显子。结论：一名患有C . 1501c >A （p.P501T）和C . 1733t >C (p.L578P) TGFBI变异的39岁女性LCD患者表现为单侧角膜表现，包括复发性角膜糜烂，细格纹，角膜中央前间质混浊。这项研究的发现可能对乳糜泻治疗有益。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.