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DOI: 10.1055/a-2255-8098
DOI: 10.1055/a-2255-8098
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Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy
Diagnose einer inkompletten kongenitalen stationären Nachtblindheit in einem 2-jährigen JungenIntroduction
Congenital stationary night blindness (CSNB) is an umbrella term for a clinically and genetically heterogeneous group of rare inherited retinal diseases (IRDs). Incomplete CSNB (iCSNB) is a rare subtype, with only around 30 detailed clinical case descriptions (excluding reports on female carriers) published so far [1], [2], [3], [4], [5]. First symptoms such as nyctalopia, nystagmus, strabismus and markedly reduced visual acuity (VA) typically occur within the first year of life, with nystagmus usually being the first observable symptom [6].
Publication History
Received: 10 January 2024
Accepted: 26 January 2024
Article published online:
23 April 2024
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References
- 1 Men CJ, Bujakowska KM, Comander J. et al. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis 2017; 23: 695-706
- 2 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.
- 3 Kimchi A, Meiner V, Silverstein S. et al. An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers. Ophthalmic Genet 2019; 40: 443-448 DOI: 10.1080/13816810.2019.1681008.
- 4 Preising MN, Friedburg C, Bowl W. et al. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. Biomed Res Int 2018; 2018: 1048317 DOI: 10.1155/2018/1048317.
- 5 Marziali E, Van Den Broeck F, Bargiacchi S. et al. Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. Ophthalmic Genet 2023; 44: 152-162 DOI: 10.1080/13816810.2022.2132514.
- 6 Simonsz HJ, Florijn RJ, van Minderhout HM. et al. Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture. Strabismus 2009; 17: 158-164 DOI: 10.3109/09273970903396893.
- 7 Liu X, Kerov V, Haeseleer F. et al. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. Channels (Austin) 2013; 7: 514-523 DOI: 10.4161/chan.26376.
- 8 Maddox JW, Randall KL, Yadav RP. et al. A dual role for Ca(v)1.4 Ca(2+) channels in the molecular and structural organization of the rod photoreceptor synapse. Elife 2020; 9: e62184 DOI: 10.7554/eLife.62184.
- 9 Leahy KE, Wright T, Grudzinska Pechhacker MK. et al. Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. Genes (Basel) 2021; 12: 330 DOI: 10.3390/genes12030330.
- 10 Kim HM, Joo K, Han J. et al. Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients. Genes (Basel) 2021; 12: 789 DOI: 10.3390/genes12060789.
- 11 Bijveld MM, Florijn RJ, Bergen AA. et al. Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness. Ophthalmology 2013; 120: 2072-2081 DOI: 10.1016/j.ophtha.2013.03.002.
- 12 Pearce WG, Reedyk M, Coupland SG. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 1990; 25: 3-10
- 13 Almutairi F, Almeshari N, Ahmad K. et al. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia. Acta Ophthalmol 2021; 99: 581-591 DOI: 10.1111/aos.14693.
- 14 Hauke J, Schild A, Neugebauer A. et al. A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS One 2013; 8: e76414 DOI: 10.1371/journal.pone.0076414.
- 15 Huang L, Zhang Q, Li S. et al. Exome sequencing of 47 Chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One 2013; 8: e65546 DOI: 10.1371/journal.pone.0065546.
- 16 Jalkanen R, Mäntyjärvi M, Tobias R. et al. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet 2006; 43: 699-704 DOI: 10.1136/jmg.2006.040741.
- 17 Raghuram A, Hansen RM, Moskowitz A. et al. Photoreceptor and postreceptor responses in congenital stationary night blindness. Invest Ophthalmol Vis Sci 2013; 54: 4648-4658 DOI: 10.1167/iovs.13-12111.
- 18 Richards S, Aziz N, Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-424 DOI: 10.1038/gim.2015.30.
- 19 Hoda JC, Zaghetto F, Koschak A. et al. Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J Neurosci 2005; 25: 252-259 DOI: 10.1523/jneurosci.3054-04.2005.
- 20 Hemara-Wahanui A, Berjukow S, Hope CI. et al. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A 2005; 102: 7553-7558 DOI: 10.1073/pnas.0501907102.
- 21 Peloquin JB, Rehak R, Doering CJ. et al. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. Neuroscience 2007; 150: 335-345 DOI: 10.1016/j.neuroscience.2007.09.021.