Evidence map›Paper›PMID 40847091›Full record

Observational studyJapanese journal of ophthalmology2026

Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.

Dan Wang, Hong-Yan Jia, Yi Liang, Qian Ma, Qing-Lin Chang, Ran-Ran Zhang, Yong-Hong Jiao

Abstract readObservational Study
PubMed Publisher
In one paragraph

Observational study in Japanese journal of ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Dan WangBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China.
Hong-Yan JiaBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China.
Yi LiangBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China.
Qian MaBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China.
Qing-Lin ChangDepartment of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Ran-Ran ZhangBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China.
Yong-Hong JiaoBeijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dong Jiao Min Xiang Street, Dongcheng District, Beijing, 100730, China. yhjiao2001@aliyun.com.

Funding

Beijing Municipal Natural Science Foundation 7212017National Natural Science Foundation of China 82070999National Natural Science Foundation of China 82371085
6 · The paper itself

Abstract

purposeTo compare the clinical and neuroimaging phenotypes in Chinese patients with congenital fibrosis of extraocular muscles (CFEOM) harboring KIF21A versus TUBB3 variants. STUDY

designRetrospective, observational case series.

methodsA retrospective review of 37 CFEOM patients harboring mutations of KIF21A (n = 25) and TUBB3 (n = 12) with clinical examinations was performed. MRI was used to evaluate orbital, encephalic, and intracranial nerve integrity. The diameters of oculomotor nerve (CN3) and abducens nerves (CN6), the cross-section area (CSA) of the optic nerve (ON) and the volumes of extraocular muscles (EOMs) were measured in the mutant groups and normal control group (n = 20).

resultsThe CFEOM-KIF21A group had a slightly higher percentage of bilateral blepharoptosis (95% vs. 70%) and synergistic convergence (40% vs. 20%) compared with the CFEOM-TUBB3 group. The diameter of CN3 and the CSA of ON were significantly smaller in the mutant groups than the control. The median diameter of CN6 was smaller in the KIF21A group than in the TUBB3 group (P < 0.001). The median volumes of the superior rectus, lateral rectus, and inferior oblique muscle in the KIF21A group were significantly smaller than TUBB3 group. 10% of KIF21A families and 40% of TUBB3 families were accompanied by systemic congenital malformation (P = 0.070).

conclusionMost of the CFEOM-KIF21A patients occur as isolated cases, tend to suffer a more severe ocular phenotype and CN6 hypoplasia. CFEOM-TUBB3 patients tend to present with syndromic CFEOM, systemic involvement is mainly associated with brain malformations, and appear to have a clear genotype-phenotype correlation.

Indexed as

DNAKinesinsMagnetic Resonance ImagingMutationOculomotor MusclesOphthalmoplegiaTubulinAdolescentAdultChildChild, PreschoolCongenital Cranial Dysinnervation DisordersDNA Mutational AnalysisFemaleFibrosisHumansDNAKIF21A protein, humanKinesinsTUBB3 protein, humanTubulinCongenital fibrosis of extraocular musclesKIF21AMRITUBB3

Identifiers

PMID40847091

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.