Associated Papers
Gene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.
Yang L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.
Yang X et al.
Science China. Life Sciences, 2025
Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.
Yalcin Z et al.
Clinical Genetics, 2025
39905760 (PubMed )
Supplement: CGE-108-179-s004.pdf
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Li H et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.
Wang Y et al.
Retina (philadelphia, Pa.), 2023
36729610 (PubMed )
Supplement: retina-43-659-s001.xlsx › Sheet1
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Hanany M et al.
Translational Vision Science & Technology, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Zhang X et al.
Molecular Vision, 2018
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