Related Experiment Video

Updated: Aug 5, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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
PubMed

Insights

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.

Keywords:
CPAMD8CYP1B1anterior segment dysgenesisaxial lengthcongenital glaucomadeep sclerectomydigenic inheritanceposterior staphyloma

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