| Title |
Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans |
| Creator |
Helen J. Kuht; Rebecca J. McLean; Abdullah Aamir; Gail D. E. Maconachie; Irene Gottlob; Mervyn G. Thomas |
| Affiliation |
The University of Leicester Ulverscroft Eye Unit (HJK, RJM, AA, GDEM, IG, MGT), Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, Leicester, United Kingdom; and Health Sciences School (GDEM), Division of Ophthalmology & Orthoptics, University of Sheffield, United Kingdom |
| Subject |
Albinism; Diagnosis, Differential; Humans; Infant; Nystagmus, Pathologic / diagnosis; Spasms, Infantile |
| Date |
2023-12 |
| Date Digital |
2023-12 |
| References |
1. Gronskov K, Jespersgaard C, Bruun GH, Harris P, Brondum-Nielsen K, Andresen BS, Rosenberg T. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. Sci Rep. 2019;9:645. 2. Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan WM, Thomas S, Gottlob I. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011;118:1653-1660. 3. Thomas MG, Maconachie G, Sheth V, McLean RJ, Gottlob I. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. Eur J Hum Genet. 2017;25:725-734. 4. Brodsky MC, Wright KW. Infantile esotropia with nystagmus: a treatable cause of oscillatory head movements in children. Arch Ophthalmol. 2007;125:1079-1081. 5. Summers CG, Oetting WS, King RA. Diagnosis of oculocutaneous albinism with molecular analysis. Am J Ophthalmol. 1996;121:724-726. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, December 2023, Volume 43, Issue 4 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6c7qfby |
| Setname |
ehsl_novel_jno |
| ID |
2635202 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6c7qfby |
