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- Title
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
- Authors
Smirnov, Vasily M.; Lasseaux, Eulalie; Michaud, Vincent; Courdier, Cécile; Meunier, Isabelle; Arveiler, Benoit; Defoort-Dhellemmes, Sabine
- Abstract
Introduction: Infantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR pathogenic variant with electrophysiological evidence of chiasmal misrouting. Materials and methods: Complete ocular examination, fundus imaging, visual evoked potentials (VEP) and full-field electroretinography were performed at initial presentation. Genetic testing was performed by whole exome sequencing. Results: Female patient of 6 years old presented a reduced best corrected visual acuity, an infantile nystagmus and a grade III typical foveal hypoplasia without ocular hypopigmentation. A crossed asymmetry was discovered on pattern onset/offset VEP. Genetic testing put in evidence a novel homozygous variant in AHR: c.2242del, p. (Gln748Lysfs*5). During 11-years follow-up period, BCVA gradually improved. There was no evidence of retinal degeneration. Conclusion: AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.
- Subjects
NYSTAGMUS; VISUAL evoked potentials; GENETIC testing; RETINAL degeneration; VISUAL acuity
- Publication
Documenta Ophthalmologica, 2024, Vol 149, Issue 1, p47
- ISSN
0012-4486
- Publication type
Case Study
- DOI
10.1007/s10633-024-09979-6