P768: Obstetrical outcome in brittle cornea syndrome: A novel case of compound heterozygous PRDM5 variants without parental consanguinity
Abstract
A multidisciplinary team, including Genetics, Maternal–Fetal Medicine, Ophthalmology, Physical Therapy, and Anesthesiology, coordinated her care. Ophthalmology performed serial assessments to monitor corneal stability, and precautions emphasized minimizing ocular strain with protective eyewear. Given stable findings, an intrapartum plan was developed to reduce fluctuations in venous and intracranial pressure through laboring down, gentle coached pushing, and potential operative assistance.
Fields of Study & Subjects
Connective tissue disorders research
Genomics and Rare Diseases
Corneal surgery and disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104260–104260
- Publication date
- 1 January 2026
- Language
- EN