Evidence map›Paper›PMID 41402918›Full record

ArticleHuman genomics2025

Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province.

Feng-Juan Gao, Cong Duan, Kai-Xin Chen, Yu-Qiao Ju, Qing Chang, Juan-Juan Li, Li-Wei Zhang, Zhu-Lin Hu, Ge-Zhi Xu, Yuan Zong

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Feng-Juan Gao *Eye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Cong Duan *Yunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan University, Yunnan, China.
Kai-Xin ChenEye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Yu-Qiao JuEye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Qing ChangEye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Juan-Juan LiYunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan University, Yunnan, China.
Li-Wei ZhangYunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan University, Yunnan, China.
Zhu-Lin HuYunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan University, Yunnan, China. hzl77@263.net.
Ge-Zhi XuEye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China. drxugezhi@163.com.
Yuan ZongEye Institute, Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China. zongyuan326@163.com.

Funding

National Natural Science Foundation of China 82201204Shanghai Municipal Science and Technology Commission 25J32800203the Shanghai Municipal Science and Technology Commission 25ZR1402058
6 · The paper itself

Abstract

backgroundGyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by OAT mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations.

resultsEight patients from five families all exhibited high myopia (mean - 8.28 D), early-onset vision loss, and elevated plasma ornithine. Parapapillary atrophy (PPA) was common (76.92%) and correlated with worse BCVA and longer AL. Four novel OAT mutations were identified: c.213G > A (p.Trp71Ter), c.799 A > C (p.Thr267Pro), c.897 C > A (p.Tyr299Ter) and c.-30 + 22_-30 + 43del. Minigene assays confirmed aberrant splicing for the latter.

conclusionsThis study identifies the first pathogenic 5' UTR variant in GACR, reveals ethnic-specific mutation profiles, and underscores PPA as a severity-linked feature.

Indexed as

ChoroidGyrate AtrophyOrnithine-Oxo-Acid TransaminaseRetina5' Untranslated RegionsAdolescentAdultChildChinaCohort StudiesEast Asian PeopleFemaleHumansMaleMutationPedigree5' Untranslated RegionsOrnithine-Oxo-Acid Transaminase5' untranslated regionFoveoschisisGyrate atrophyOAT geneParapapillary atrophy

Identifiers

PMID41402918
PMCPMC12709680

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.