Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants

Keyphrases

• Biallelic 100%
• Pathogenic Variants 100%
• Variable Phenotype 100%
• CYP1B1 100%
• Congenital Corneal Opacity 100%
• Limbus 66%
• Adhesion 33%
• Intraocular Pressure Control 33%
• Avascular 33%
• Iridocorneal Adhesion 33%
• Haab Striae 33%
• Endothelial Cells 16%
• Children's Hospital 16%
• Pathological Changes 16%
• Phenotypic Variation 16%
• Retrospective Chart Review 16%
• Epithelium 16%
• Descemet Membrane 16%
• Pittsburgh 16%
• Penetrating Keratoplasty 16%
• Genetic Testing 16%
• Distinctive Features 16%
• Opacity 16%
• Cellularity 16%
• Keratinizing 16%
• Ophthalmic Examination 16%
• Compound Heterozygous mutation 16%
• Cornea 16%
• Corneal Clouding 16%
• Crescent 16%
• Premature Stop Codon 16%
• Missense Variants 16%
• Fellow Eye 16%
• Anomaly Patterns 16%
• Histopathological Images 16%
• Classical Features 16%
• Corneal Opacity 16%
• Corneal Diameter 16%
• Congenital Glaucoma 16%
• Peters Anomaly 16%
• Corneal Opacification 16%
• Heterozygous Pathogenic Variants 16%
• Anterior Segment Optical Coherence Tomography (AS-OCT) 16%
• Cytopathy 16%
• High-frequency Ultrasound 16%
• Raised Intraocular Pressure 16%

Medicine and Dentistry

• Cornea Opacity 100%
• CYP1B1 100%
• Corneal Limbus 66%
• Intraocular Pressure 50%
• Pressure Control 33%
• Striae Distensae 33%
• Prematurity 16%
• Clinician 16%
• Endothelial Cell 16%
• Histopathology 16%
• Agents Acting on the Eye 16%
• Genetic Screening 16%
• Penetrating Keratoplasty 16%
• Optical Coherence Tomography 16%
• Descemet's Membrane 16%
• Peters Anomaly 16%
• Congenital Glaucoma 16%
• Stop Codon 16%