SMIRNOV, Vasily M; LASSEAUX, Eulalie; MICHAUD, Vincent; COURDIER, Cécile; MEUNIER, Isabelle; ARVEILER, Benoit; DEFOORT-DHELLEMMES, Sabine

doi:10.1007/s10633-024-09979-6

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LASSEAUX, Eulalie
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

MICHAUD, Vincent

CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

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Documenta Ophthalmologica. 2024-08-01, vol. 149, n° 1, p. 47-52

Résumé en anglais

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. 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. 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. (Gln748Lysfs5). During 11-years follow-up period, BCVA gradually improved. There was no evidence of retinal degeneration. AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.< Réduire

Mots clés en anglais

AHR gene

Crossed VEP asymmetry

Foveal hypoplasia

Infantile nystagmus

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Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

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