PCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report
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By
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Khaled Abu-Amero
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Gorka Sesma
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July 15, 2026
Clinical Scorecard: Longitudinal Case Study of Primary Congenital Glaucoma Associated with Biallelic Variants in CYP1B1 and CPAMD8
At a Glance
| Category | Detail |
|---|
| Condition | Primary Congenital Glaucoma (PCG) |
| Key Mechanisms | Dysgenesis of the trabecular meshwork and anterior chamber angle leading to impaired aqueous humor outflow and elevated intraocular pressure. |
| Target Population | Pediatric patients, particularly those with genetic predispositions. |
| Care Setting | Tertiary ophthalmology center |
Key Highlights
- PCG is characterized by photophobia, tearing, corneal edema, and elevated intraocular pressure.
- Genetic analysis revealed compound heterozygosity in CYP1B1 and CPAMD8.
- The patient required four surgical interventions for IOP control over five years.
- Longitudinal imaging documented rapid buphthalmos and progressive anterior segment dysgenesis.
- This case highlights the importance of genetic analysis in atypical pediatric glaucoma.
Guideline-Based Recommendations
Diagnosis
- Diagnosis confirmed through examination under anesthesia and imaging studies.
Management
- Surgical interventions including deep sclerectomy with mitomycin C and trabeculotomy ab externo.
Monitoring & Follow-up
- Regular assessments of intraocular pressure and visual acuity.
Risks
- Potential for progressive optic neuropathy and vision loss if untreated.
Patient & Prescribing Data
Pediatric patients with severe bilateral PCG.
Multiple surgical interventions may be necessary to achieve long-term IOP control.
Clinical Best Practices
- Utilize comprehensive genetic testing for atypical cases of congenital glaucoma.
- Monitor axial length and intraocular pressure regularly in affected patients.
- Consider digenic inheritance models in cases with multiple genetic variants.
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