A Case Study of Infantile Nystagmus Syndrome (Congenital)
Journal of Case Reports in Medical Science, Volume 9, Issue 1,
Page 13-15
DOI:
10.56557/jocrims/2023/v9i18187
Abstract
Infantile nystagmus (IN), formerly known as congenital nystagmus, is an involuntary to-and-fro movement of the eyes that persists throughout life. IN is one of three types of early-onset nystagmus that first appear in infancy, alongside fusion maldevelopment nystagmus syndrome and spasmus nutans syndrome. Patients with acquired nystagmus may also be seen by optometrists. The features of IN overlap largely with those of fusion maldevelopment nystagmus syndrome, spasmus nutans syndrome, and acquired nystagmus, yet the management for each subtype is different. We report a case of bilateral congenital sensory nystagmus with bilateral megalocornea with left-sided relative afferent pupil defect with left eye global enlargement in ap axis with reduced caliber in left optic artery with pseudo polycorea with reduced visual acuity in the bilateral eye with buphthalmos with haab striae.
- Nystagmus
- infants
- syndrome
How to Cite
References
Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol. 2002;86(10):1152–1160.
Kanski Clinical Opthalmology, Chapter 19, 745-825.
Brodsky MC, Keating GF. Chiasmal glioma in spasmus nutans: A cautionary note. J Neuroophthalmol. 2014;34(3):274–5.
Delorme C, Gras D, Roze E. Spasmus nutans: More than meets the eye. Pediatr Neurol. 2015;53(4):367–8.
DOI: 10.1016/j.pediatrneurol.2015.06.011. Epub 2015 Jun 20.
Tornqvist K1, Ericsson A, Källén B. Optic nerve hypoplasia: Risk factors and epidemiology. Acta Ophthalmol Scand. 2002;80(3):300–4.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007;92(2):691–7. Epub 2006 Dec 5.
Weiss AH1, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO. Eye movement abnormalities in Joubert syndrome. Invest Ophthalmol Vis Sci. 2009;50(10):4669–77. DOI: 10.1167/iovs.08-3299. Epub 2009 May 14.
Self JE, Shawkat F, Crispin MT, et al. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol. 2007;125(9):1255–1263. [PubMed]
Thomas S, Proudlock FA, Sarvananthan N, et al. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain. 2008;131(Pt 5):1259–1267. [PubMed]
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