Longitudinal Case Study of Primary Congenital Glaucoma Associated with Biallelic Variants in CYP1B1 and CPAMD8

Background

Primary congenital glaucoma is a rare but serious condition that can lead to significant visual impairment if not managed appropriately. The condition is often linked to genetic mutations, with CYP1B1 being the most common gene associated with autosomal recessive PCG.

Data Highlights

Key Findings

• The patient presented with photophobia, tearing, and corneal edema at two months of age.
• Whole exome sequencing revealed compound heterozygosity for CYP1B1 and CPAMD8 variants.
• Four surgical interventions were required to control intraocular pressure (IOP).
• Progressive ocular changes included buphthalmos and posterior staphyloma.
• This case represents the first reported combination of CYP1B1 and CPAMD8 variants in congenital glaucoma.

Clinical Implications

The findings underscore the necessity of genetic testing in pediatric glaucoma cases, particularly those that are severe or atypical. Comprehensive genetic analysis can provide insights into the underlying mechanisms of the disease and inform treatment strategies.

Conclusion

This case study emphasizes the complexity of primary congenital glaucoma and the role of genetic factors in its presentation and management. Continued research and genetic analysis are essential for advancing understanding and treatment of this condition.

Related Resources & Content

1. Frontiers in Medicine, 2026 -- Case Report: Identification of a CRYGD variant in a family with congenital cataract
2. Ophthalmology Management, 2023 -- Genetic Predisposition to Glaucoma
3. Frontiers in Medicine, 2026 -- Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome
4. Childhood Glaucoma - PubMed
5. conexiant — FOXC1 Duplications Linked to Early-Onset Glaucoma
6. Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies
7. Comparison of 360-Degree Trabeculotomy versus Traditional Angle Surgery in Primary Congenital Glaucoma: A Systematic Review and Meta-Analysis
8. Childhood Glaucoma - PubMed