Evidence map›Paper›PMID 40637993›Full record

Observational studyScience China. Life sciences2025

Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.

Xuan Yang, Shiyi Yin, Jinyuan Wang, Haihan Zhang, Chuqiao Liang, Jingting Luo, Shiqiang Zhao, Wenbin Wei

Abstract readObservational Study
PubMed Publisher
In one paragraph

Observational study in Science China. Life sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

8 authors.

Xuan Yang *Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Shiyi Yin *Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Jinyuan WangBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Haihan ZhangBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Chuqiao LiangBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Jingting LuoBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Shiqiang ZhaoBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Wenbin WeiBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China. weiwenbintr@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this cross-sectional observational study, we conducted comprehensive ophthalmic evaluations, including fundus imaging, fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT), microperimetry, and electroretinography, in 164 patients with Bietti crystalline dystrophy (BCD) from 159 families. The mean age of onset was (29.9±8.9) years, with night blindness being the most common onset symptom (54.3%). FAF revealed diffuse hypoautofluorescence in 86.7% of eyes, and SS-OCT identified outer retinal tabulations (ORTs) in 69.9% of eyes, indicative of severe retinal pigment epithelium (RPE) dysfunction. Microperimetry demonstrated a gradual decline in retinal sensitivity and fixation stability with disease progression, particularly in advanced stages. We identified 34 distinct CYP4V2 variants, three of which were novel. Patients with biallelic truncating mutations experienced earlier disease onset and progressed to legal blindness at a younger age. These findings provide a comprehensive overview of structural and functional deterioration in BCD and underscore the significant impact of truncating mutations on disease progression.

Indexed as

Corneal Dystrophies, HereditaryRetinal DiseasesAdolescentAdultAge of OnsetChildCohort StudiesCross-Sectional StudiesCytochrome P450 Family 4Disease ProgressionElectroretinographyFemaleGenotypeHumansMaleMiddle AgedCYP4V2 protein, humanCytochrome P450 Family 4Bietti crystalline dystrophyclinical featureCYP4V2 gene mutationmicroperimetry

Identifiers

PMID40637993

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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.