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Related Concept Videos

Glaucoma: Overview01:25

Glaucoma: Overview

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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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Open Angle Glaucoma: Treatment01:27

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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.
Drugs such as carbonic anhydrase inhibitors, α2- and...
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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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Related Experiment Video

Updated: Sep 18, 2025

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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Video-Oculography as a Key Diagnostic Tool for SCA27B: A Real-Life Experience.

Sarah Coulette1, Augustin Lecler2, Chloé Le Cossec3

  • 1Department of Neurology, Hôpital Fondation Rothschild, Paris, France.

European Journal of Neurology
|June 25, 2025
PubMed
Summary

Video-oculography (VOG) effectively detects downbeat nystagmus (DBN) in Spinocerebellar Ataxia type 27B (SCA27B) patients. 4-aminopyridine (4-AP) offers symptomatic relief for SCA27B, improving balance and ataxia symptoms.

Keywords:
SCA27Bcerebellar ataxiadownbeat nystagmusmovement disordersneurogeneticsvideo‐oculography

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Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Spinocerebellar ataxia type 27B (SCA27B) is a genetic disorder causing late-onset cerebellar ataxia, linked to FGF14 gene GAA repeat expansions.
  • Downbeat nystagmus (DBN) is a recognized hallmark of SCA27B, necessitating improved diagnostic and monitoring tools.

Purpose of the Study:

  • To evaluate the diagnostic utility of video-oculography (VOG) for identifying SCA27B.
  • To assess the effectiveness of 4-aminopyridine (4-AP) in managing SCA27B symptoms and its impact on oculomotor function.

Main Methods:

  • Retrospective analysis of idiopathic late-onset cerebellar ataxia (ILOCA) patients undergoing clinical, MRI, VOG, and genetic testing for FGF14-GAA.
  • Comparison of oculomotor features between SCA27B carriers and non-carriers.
  • Evaluation of symptomatic carriers treated with 4-AP using SARA and VOG at baseline, 2, and 8 months.

Main Results:

  • FGF14-GAA expansions were identified in 35% of tested patients.
  • DBN was significantly more prevalent in SCA27B carriers (92%) versus non-carriers (33%), often with gaze-evoked nystagmus.
  • MRI scans did not differentiate carriers. Treated patients showed improved balance and SARA scores, sustained over 8 months.

Conclusions:

  • VOG is crucial for diagnosing DBN, a key indicator for SCA27B, guiding targeted genetic testing.
  • 4-AP demonstrates efficacy as a symptomatic treatment for SCA27B, improving motor function and balance.