Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia
Author:
Funder
Université de Bordeaux
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10633-024-09979-6.pdf
Reference25 articles.
1. Mayer AK, Mahajnah M, Thomas MG et al (2019) Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Brain 142:1528–1534. https://doi.org/10.1093/brain/awz098
2. AlMoallem B, Alharthi E (2022) Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report. Ophthalmic Genet 43:425–429. https://doi.org/10.1080/13816810.2022.2039718
3. Apkarian P, Reits D, Spekreijse H, Van Dorp D (1983) A decisive electrophysiological test for human albinism. Electroencephalogr Clin Neurophysiol 55:513–531. https://doi.org/10.1016/0013-4694(83)90162-1
4. Kriss A, Russell-Eggitt I, Taylor D (1990) Childhood albinism. Visual electrophysiological features. Ophthalmic Paediatr Genet 11:185–192. https://doi.org/10.3109/13816819009020978
5. van Genderen MM, Riemslag FCC, Schuil J et al (2006) Chiasmal misrouting and foveal hypoplasia without albinism. Br J Ophthalmol 90:1098–1102. https://doi.org/10.1136/bjo.2006.091702
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