Ocular Biometry and Genomic Association in Primary Angle Closure Disease. A Descriptive study

Area of Science:

• Ophthalmology
• Genetics
• Biometry

Background:

• Primary angle closure disease (PACD) is a significant cause of vision loss.
• Understanding ocular biometric variations and genetic factors is crucial for PACD pathogenesis.
• Previous studies have identified candidate genes, but findings are population-specific or controversial.

Purpose of the Study:

• To compare ocular biometric parameters between PACD patients and normal controls.
• To investigate the role of PCMTD1 and COL11A1 gene polymorphisms in PACD development within the studied population.

Main Methods:

• A cross-sectional study comparing 100 PACD patients with age-matched controls.
• Ophthalmological evaluation including slit lamp biomicroscopy, tonometry, gonioscopy, and optic disc assessment.
• Ocular biometry (AXL, ACD, LT, CCT, K) using a Partial Coherence Interferometry biometer; calculation of RLP and LAF.
• Genotyping for PCMTD1 and COL11A1 genetic polymorphisms in both groups.

Main Results:

• PACD patients showed significantly shorter axial length (AXL), shallower anterior chamber depth (ACD), and increased lens thickness (LT) compared to controls.
• Significant differences were observed in relative lens position (RLP), lens axial length factor (LAF), and mean keratometry (K).
• Central corneal thickness (CCT) was not significantly different; PACG subgroup had steeper corneas. No significant association was found between PCMTD1/COL11A1 polymorphisms and PACD.

Conclusions:

• Ocular biometric parameters, excluding corneal curvature, differ significantly in PACD patients versus normal subjects.
• The studied genetic polymorphisms in PCMTD1 and COL11A1 do not appear to be associated with PACD in this population.
• These findings contribute to understanding PACD's multifactorial etiology, highlighting biometric variations over specific genetic links in this cohort.