Work

Gaze-holding nystagmus in chronic progressive external ophthalmoplegia: a case report

Year: 2025

Type: article

Abstract: We report a patient with chronic progressive external ophthalmoplegia (CPEO) who developed bilateral horizontal gaze-holding nystagmus, a previously unreported phenomenon. Video-oculography showed marked slowing of horizontal and vertical saccades, and bilateral horizontal gaze-evoked nystagmus with decreasing-velocity slow-phases waveforms. Horizontal rebound nystagmus was also observed. No abnormalities were identified in the brainstem or cerebellum on brain magnetic resonance imaging. A genetic analysis demonstrated a heterozygous missense mutation c.311A>G (p. D104G, rs28999114) in the SLC25A4 gene. Twitch motoneurons of the global layer receive inputs from premotor areas involved in the generation of eye movement, such as saccadic burst neurons, while non-twitch motoneurons of the orbital layer receive inputs from the medullary structures concerned with gaze-holding. In our patient with CPEO, the presence of omnidirectional ophthalmoplegia and bilateral horizontal gaze-holding nystagmus may indicate the involvement of the global layers of all extraocular muscles, as well as the orbital layers of the horizontal extraocular muscles.

Source: Research in Vestibular Science

DOI: 10.21790/rvs.2025.005

Authors: Eugene Jung, Seo-Young Choi, Jae Hwan Choi, Kwang-Dong Choi

Institutions: Pusan National University Hospital, Pusan National University, Pusan National University Yangsan Hospital

Language: English

Topic: Ophthalmology and Eye Disorders

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Pusan National University Hospital