Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Claudia YahalomIrene AntebyKaren HendlerTamar HarelAvital EilatMichal Macarov

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)

Combined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Keyphrases

copy number
pulmonary embolism
preterm birth
genome wide
autism spectrum disorder
transcription factor
single molecule
loop mediated isothermal amplification
pregnancy outcomes
sensitive detection
real time pcr