Hereditary collagen disease a cause of glaucoma

Hereditary collagen disease a cause of glaucoma
Roibeard O’hEineachain
Roibeard O’hEineachain
Published: Thursday, May 16, 2019
The mutations in collagen genes that cause osteogenesis imperfecta (OI) also appear to cause primary open-angle glaucoma (POAG) in affected individuals, indicating that collagen abnormalities may also underlie glaucomatous pathology, said Emer Doolan MD at the Annual Conference of the Irish College of Ophthalmologists. Dr Doolan, who is based at the Mater Misericordiae University Hospital Dublin, noted that OI comprises a group of inherited disorders characterised by bone fragility and the ocular finding of ‘blue sclera’ in addition to numerous ocular manifestations. The OI conditions are cased by autosomal dominant mutations in the COL1A1 and Col11A2 genes in 90% of cases. The types of collagen the genes code for are found in the bone skin sclera and cornea. Dr Doolan and her associates carried out genetic testing and corneal hysteresis and central corneal thickness measurements in eight members of an OI-affected family they encountered in their clinical practice They found that all six family members affected with OI were heterozygous for a pathogenic mutation in intron 26 of the COL1A1 gene. In addition, two of the affected individuals had developed POAG at ages 40 and 45 years respectively, and all of those with OI had significantly thinner CCT and lower CH than normal. Dr Doolan therefore recommended screening for glaucoma in all OI-affected individuals, and that the testing should include including corneal hysteresis measurements
Tags: glaucoma
Latest Articles
ESCRS Today 2025: Happy Anniversaries!

ESCRS celebrates milestones with pioneers in IOLs, LASIK, femtosecond lasers, and corneal transplantation.

Read more...

ESCRS Today 2025: A Congress for Everyone

From YOs to families, the ESCRS Annual Meeting embraces full participation through inclusivity.

Read more...

ESCRS Today 2025: All Eyes on Innovation

Watching out for obstacles and opportunities

Read more...

Beyond the Numbers

Empowering patient participation fosters continuous innovation in cataract surgery.

Read more...

Thinking Beyond the Surgery Room

Practice management workshop focuses on financial operations and AI business applications.

Read more...

Aid Cuts Threaten Global Eye Care Progress

USAID closure leads retreat in development assistance.

Read more...

Supplement: ESCRS Clinical Trends Series: Presbyopia

Read more...

Debate: FS-LASIK or KLEx for Hyperopia?

FS-LASIK has more of a track record, but KLEx offers advantages.

Read more...

Four AI Applications Ready for Practice

Commercial offerings may save time, improve practice and research.

Read more...

Perioperative Medication Regimens for Cataract Surgery

Randomised controlled clinical trial results provide evidence-based guidance.

Read more...