Novel insights into the molecular pathogenesis ofCYP4V2-associated Bietti's retinal dystrophy

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

(2014) Stephanie Halford et al.   OPHTHALMOLOGY

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

(2014) Houfa Yin et al.   PLoS One

Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene

(2013) Jin Kwon Chung et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

Bietti Crystalline Retinopathy: Report of Retinal Crystal Deposition in Male Adolescent Siblings

(2012) Bita Manzouri et al.   ARCHIVES OF OPHTHALMOLOGY

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

(2012) Settimio Rossi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti’s crystalline dystrophy

(2012) Yanping Song et al.   INTERNATIONAL OPHTHALMOLOGY

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy

(2011) Xueshan Xiao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Outer retinal circular structures in patients with Bietti crystalline retinopathy

(2011) Hiroshi Kojima et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Bietti crystalline dystrophy: a morpho-functional evaluation

(2011) Mariacristina Parravano et al.   DOCUMENTA OPHTHALMOLOGICA

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

(2011) Bernd Wissinger et al.   HUMAN MUTATION

High-Resolution Optical Coherence Tomography Shows New Aspects of Bietti Crystalline Retinopathy

(2010) MARK E. PENNESI et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene

(2009) Yumiko Yokoi et al.   ACTA OPHTHALMOLOGICA

Outer Retinal Tubulation

(2009) Sandrine A. Zweifel   ARCHIVES OF OPHTHALMOLOGY

Expression and Characterization of CYP4V2 as a Fatty Acid  -Hydroxylase

(2009) M. Nakano et al.   DRUG METABOLISM AND DISPOSITION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti's Crystalline Corneoretinal Dystrophy

(2008) Juan C. Zenteno et al.   CURRENT EYE RESEARCH

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA