Importance of Early Electrophysiology in Spasmus Nutans

Background

Spasmus nutans is an acquired nystagmus that presents in infants, is accompanied by head nodding and usually disappears after about 2 years. Imaging is recommended, as a rare association with chiasmal tumors has been reported. However, further evaluation with electrophysiology is not routinely recommended, although an overlap between the features of spasmus nutans and those of cone dystrophies have been reported [1]. The aim of our case report is to underline the importance of early electrophysiological examination to uncover retinal involvement in a child thought to have spasmus nutans.

Publication History

Received: 27 September 2021

Accepted: 17 February 2022

Article published online:
26 April 2022

• References

• 1 Gottlob I, Reinecke RD. Eye and head movements in patients with achromatopsia. Graefes Arch Clin Exp Ophthalmol 1994; 232: 392-401
• 2 McCulloch DL, Marmor MF, Brigell MG. et al. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 2015; 130: 1-12
• 3 Kohl S, Baumann B, Broghammer M. et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000; 9: 2107-2116
• 4 Poloschek CM, Kohl S. [Achromatopsia]. Ophthalmologe 2010; 107: 571-580 quiz 581-572
• 5 Hirji N, Aboshiha J, Georgiou M. et al. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet 2018; 39: 149-157
• 6 Thomas MG, Kumar A, Kohl S. et al. High-resolution in vivo imaging in achromatopsia. Ophthalmology 2011; 118: 882-887
• 7 Thomas MG, Gottlob I. Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review. Strabismus 2012; 20: 175-180
• 8 Gottlob I, Helbling A. Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. Am J Ophthalmol 1999; 128: 770-772