Morphological-Gene-Clinical Phenotype Correlation Study of the Long Anterior Zonule

A Morphological, Genetic, and Clinical Phenotype Association Study of the Long Anterior Zonule (LAZ) Based on Multimodal Imaging and Genetic Testing

Long anterior zonules (LAZ) is an anatomical anomaly of the anterior segment in which zonular fibers extend abnormally forward onto the anterior lens capsule. It is potentially associated with glaucoma, late-onset retinal degeneration, and increased risks during cataract surgery. This study introduces a 3D visualization system to enhance the detection rate of LAZ. By integrating multiple imaging modalities, it systematically assesses the morphological characteristics of LAZ, aiming to provide an evidence-based foundation for subsequent efforts to establish diagnostic consensus, optimize preoperative assessments for glaucoma and cataract surgery. By elucidating the genetic mechanisms and genotype-phenotype correlations of LAZ, this research can provide theoretical support for the early identification of high-risk populations, genetic consultation, and personalized treatment.

Inclusion Criteria:

• Control Group Routine cataract patient, no signs of LAZ, intraocular pressure ≤21 mmHg, and no history of glaucoma, pigment dispersion syndrome, or other eye diseases that clearly affect the anterior segment structure.
• LAZ Group Patients with cataracts combined with LAZ were independently evaluated by at least two senior ophthalmologists under slit-lamp examination or a 3D visualization system, and were required to meet the predefined diagnostic criteria for LAZ.
• LAZ Pedigree Cohort First-degree and above relatives of the LAZ proband, aged ≥18 years, regardless of the presence or absence of LAZ or related ocular disease phenotypes.

Exclusion Criteria:

• Secondary glaucoma with a clear etiology (such as inflammatory, traumatic, or neovascular glaucoma, etc.)
• History of previous intraocular surgery (e.g., cataract, glaucoma, or vitreoretinal surgery), with refractive surgery history documented but analyzed with caution
• Presence of ocular conditions affecting anterior segment imaging quality, such as corneal leukoma or severe cataract
• Individuals with severe systemic diseases (e.g., poorly controlled diabetes, connective tissue diseases) or mental disorders that hinder cooperation during examinations
• Pregnant or lactating women.