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Klin Monbl Augenheilkd 2024; 241(04): 529-532
DOI: 10.1055/a-2211-9248
DOI: 10.1055/a-2211-9248
Der interessante Fall
A Case of Congenital Stationary Night Blindness in a Healthy Female Infant: Emphasis on Electroretinography
Eine Fallvorstellung über kongenitale stationäre Nachtblindheit bei einem gesunden Mädchen: mit Elektroretinografie als Schwerpunkt
Background
Congenital stationary night blindness (CSNB) is a rare nonprogressive retinal disorder characterised by congenitally impaired night vision and subnormal visual acuity. Important associated clinical hallmarks in CSNB are myopic refractive error, astigmatism, strabismus, and paradoxical pupillary responses. In some cases, nystagmus may also be present [1], [2].
Publication History
Received: 05 October 2023
Accepted: 13 November 2023
Article published online:
23 April 2024
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References
- 1 Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res 2015; 45: 58-110 DOI: 10.1016/j.preteyeres.2014.09.001.
- 2 Barricks ME, Flynn JT, Kushner BJ. Paradoxical pupillary responses in congenital stationary night blindness. Arch Ophthalmol 1977; 95: 1800-1804 DOI: 10.1001/archopht.1977.04450100102012.
- 3 Hawksworth NR, Headland S, Good P. et al. Aland island eye disease: clinical and electrophysiological studies of a Welsh family. Br J Ophthalmol 1995; 79: 424-430 DOI: 10.1136/bjo.79.5.424.
- 4 Carr RE, Gouras P. Oguchiʼs Disease. Arch Ophthalmol 1965; 73: 646-656 DOI: 10.1001/archopht.1965.00970030648010.
- 5 Miyake Y, Yagasaki K, Horiguchi M. et al. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 1986; 104: 1013-1020 DOI: 10.1001/archopht.1986.01050190071042.
- 6 Kamiyama M, Yamamoto S, Nitta K. et al. Undetectable S cone electroretinogram b-wave in complete congenital stationary night blindness. Br J Ophthalmol 1996; 80: 637-639 DOI: 10.1136/bjo.80.7.637.
- 7 Riggs LA. Electroretinography in cases of night blindness. Am J Ophthalmol 1954; 38: 70-78 DOI: 10.1016/0002-9394(54)90011-2.
- 8 Jiang X, Mahroo OA. Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights. Eye (Lond) 2021; 35: 2419-2437 DOI: 10.1038/s41433-021-01604-z.
- 9 Park SP, Hong IH, Tsang SH. et al. Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults. Graefes Arch Clin Exp Ophthalmol 2013; 251: 2299-2309 DOI: 10.1007/s00417-013-2296-5.
- 10 Terasaki H, Miyake Y, Nomura R. et al. Blue-on-yellow perimetry in the complete type of congenital stationary night blindness. Invest Ophthalmol Vis Sci 1999; 40: 2761-2764