PCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report - Summary - MDSpire

PCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report

  • By

  • Khaled Abu-Amero

  • Gorka Sesma

  • July 15, 2026

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Objective:

To report a five-year longitudinal case of severe bilateral primary congenital glaucoma (PCG) associated with biallelic variants in CYP1B1 and CPAMD8.

Approach:
  • Patient Information: A male patient presented at two months of age with symptoms of photophobia, tearing, and corneal edema. Family history was unremarkable.
Key Findings:
  • The patient exhibited severe bilateral PCG with rapid buphthalmos and required multiple surgical interventions.
  • Whole exome sequencing revealed biallelic variants: CYP1B1 c.182G>A (p.G61E) and CPAMD8 c.3061G>A (p.V102M).
  • This case is the first reported case of combined CYP1B1 and CPAMD8 variants in congenital glaucoma.
Interpretation:

Limitations:
  • The study is based on a single case, limiting generalizability.
  • Longitudinal data may not represent all phenotypic variations of PCG.
Conclusion:

Comprehensive genetic analysis is valuable in severe or atypical pediatric glaucoma presentations.

Original Source(s)

PCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report

  • by Khaled Abu-Amero, Gorka Sesma

  • July 15, 2026

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