Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Key Points

• The research aims to identify and describe the range of ocular anomalies associated with TRPV6 genetic variants during the prenatal period.
• Analyzed genetic samples from prenatal cases
• Documented clinical presentations of ocular anomalies
• Conducted comparative genomic studies of TRPV6 variants
• Identified new ocular anomalies linked to TRPV6 variants
• Expanded the known phenotypic spectrum beyond previously documented anomalies
• Provided insights that may guide prenatal counseling and interventions