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Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
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Related Experiment Video

Updated: Dec 23, 2025

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents
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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

Naushin H Waseem1, Sancy Low2,3,4, Amna Z Shah3

  • 1NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.

Plos Genetics
|April 28, 2020
PubMed
Summary

Researchers identified Spermatogenesis Associated Protein 13 (SPATA13) as the gene causing primary angle-closure glaucoma (PACG). Mutations in SPATA13 disrupt cell division and tissue homeostasis, leading to this common form of glaucoma blindness.

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Area of Science:

  • Genetics and Ophthalmology
  • Molecular Biology
  • Cell Biology

Background:

  • Primary angle-closure glaucoma (PACG) accounts for approximately 50% of global glaucoma-induced blindness.
  • The genetic basis for PACG has remained largely unknown, hindering effective diagnosis and treatment strategies.

Purpose of the Study:

  • To identify the causative gene responsible for primary angle-closure glaucoma (PACG).
  • To investigate the molecular mechanisms by which mutations in the identified gene contribute to PACG pathogenesis.

Main Methods:

  • Employed genetic linkage analysis and whole-genome sequencing to pinpoint the causal gene in a large family.
  • Performed mutation screening in an independent cohort of PACG patients.
  • Utilized cell line and tissue expression analysis, and studied protein localization during mitosis.

Main Results:

  • Identified Spermatogenesis Associated Protein 13 (SPATA13), also known as ASEF2, as the causal gene for PACG.
  • A specific 9 bp deletion in SPATA13 was found in all affected individuals, alongside eight additional mutations in unrelated PACG cases.
  • SPATA13 mutations were shown to increase RAC1-dependent guanine nucleotide exchange factor (GEF) activity, impacting cellular homeostasis.

Conclusions:

  • SPATA13 plays a critical role in regulating mitosis and maintaining tissue homeostasis.
  • Mutations in SPATA13 dysregulate GEF activity, leading to the development of primary angle-closure glaucoma.
  • This discovery provides a crucial genetic link for PACG and opens avenues for future therapeutic interventions.