PCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report
Khaled Abu-Amero1, Gorka Sesma2
1Research Department, King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Frontiers in Ophthalmology
|July 30, 2026
Summary
This case study details a severe, five-year journey with primary congenital glaucoma (PCG) in a young male. Genetic analysis revealed compound heterozygous variants in CYP1B1 and CPAMD8, suggesting a digenic inheritance model for this rare condition.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Primary congenital glaucoma (PCG) is a rare, severe developmental disorder impacting the anterior eye structures.
- It stems from abnormal development of the trabecular meshwork and anterior chamber angle, leading to elevated intraocular pressure (IOP).
- Early diagnosis and intervention are critical to prevent irreversible vision loss and manage buphthalmos.
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