Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Science China. Life sciences - 1 Nov 2025

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cross-Sectional Studies

Share to Cytochrome P450 Family 4

Share to Electroretinography

Share to Retinal Diseases

Share to Retinal Pigment Epithelium

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 40637993
DOI: 10.1007/s11427-024-2812-2

Genes

CYP4V2
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.PMID 40637993Read ↗

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.Semantic proximity Read ↗

Clinical and genetic features in Italian Bietti crystalline dystrophy patients.Semantic proximity Read ↗

Multimodal imaging features and genetic findings in Bietti crystalline dystrophy.Semantic proximity Read ↗

Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.Semantic proximity Read ↗

Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.Semantic proximity Read ↗

Genetics of Bietti Crystalline Dystrophy.Semantic proximity Read ↗

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.Semantic proximity Read ↗

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.Semantic proximity Read ↗

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.Semantic proximity Read ↗

A novel and efficient murine model of Bietti crystalline dystrophy.Semantic proximity Read ↗

An atypical form of Bietti crystalline dystrophy.Semantic proximity Read ↗

Observation of Natural Course Characteristics of Bietti Crystalline Dystrophy by Fundus Fluorescein AngiographySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.