Department of Ophthalmology, Uijeongbu Eulji Medical Center, Eulji University School of Medicine, Uijeongbu, Gyeonggi-do, Republic of Korea.
School of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul, Republic of Korea.
Ophthalmic Genet. 2022 Oct;43(5):716-719. doi: 10.1080/13816810.2022.2092753. Epub 2022 Jun 29.
The TUBB3 gene has been reported to be associated with type 3 congenital fibrosis of the extraocular muscles (CFEOM). The clinical features of CFEOM3 that are linked to TUBB3 mutations are diverse, ranging from mild ptosis and limitation of extraocular movement to severe ocular motility problems and central nervous system abnormalities.
This was a single retrospective case report.
This case report describes a patient with infantile esotropia, who had a heterozygous variant in TUBB3 c.904 G > A (p.A302T) known to cause CFEOM3 and her family members, who presented with manifestations associated with CFEOM3.
Given the diverse clinical features of CFEOM3, the possibility of the occurrence of CFEOM3 should be considered when there is a congenital abnormality of extraocular muscle movement and a positive family history.
TUBB3 基因已被报道与 3 型先天性眼外肌纤维化（CFEOM）有关。与 TUBB3 突变相关的 CFEOM3 的临床特征多种多样，从轻度上睑下垂和眼球运动受限到严重的眼球运动问题和中枢神经系统异常。
这是一项单回顾性病例报告。
本病例报告描述了一名患有婴儿内斜视的患者，该患者携带 TUBB3 c.904G > A（p.A302T）杂合变异，已知该变异可导致 CFEOM3，其家族成员表现出与 CFEOM3 相关的表现。
鉴于 CFEOM3 的临床特征多种多样，当存在眼外肌运动的先天性异常和阳性家族史时，应考虑 CFEOM3 的发生可能性。
