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Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia

Hirji, N; Theodorou, M; Bainbridge, JW; Venturi, N; Michaelides, M; (2020) Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia. Journal of American Association for Pediatric Ophthalmology and Strabismus , 24 (2) 82.e1-82.e7. 10.1016/j.jaapos.2019.11.013. Green open access

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Abstract

PURPOSE: To describe the nystagmus characteristics of subjects with molecularly confirmed CNGB3-associated achromatopsia and report the spectral domain optical coherence tomography (SD-OCT) findings in these individuals. METHODS: Adults and children with CNGB3-achromatopsia underwent visual acuity testing, ocular motility assessments, video nystagmography, and SD-OCT imaging. Qualitative assessment of foveal structure was performed by grading SD-OCT images into one of five categories. RESULTS: A total of 18 subjects (11 adults) were included. The majority demonstrated a phoria, with manifest strabismus present in only 3 subjects. The predominant nystagmus waveform within the cohort was pure pendular. Nine individuals demonstrated a mixture of waveforms. Nystagmus frequencies were 4-8 cycles/second, with no notable differences in eye movements between adults and children. SD-OCT imaging revealed a continuous ellipsoid zone (EZ) at the fovea in 2 subjects (grade 1) and EZ disruption (grade 2) in the remaining 16. Retinal structure characteristics were symmetrical in both eyes in each subject. CONCLUSIONS: In our study cohort, nystagmus in CNGB3-associated achromatopsia had distinctive features, and the majority of subjects had retinal abnormalities at the fovea on SD-OCT. Early use of SD-OCT in the clinical work-up may eliminate the need for more invasive investigations, such as neuro-imaging.

Type: Article
Title: Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jaapos.2019.11.013
Publisher version: https://doi.org/10.1016/j.jaapos.2019.11.013
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10093638
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