Klin Monbl Augenheilkd
DOI: 10.1055/a-2255-8098
Der interessante Fall

Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy

Diagnose einer inkompletten kongenitalen stationären Nachtblindheit in einem 2-jährigen Jungen
David A. Merle
1   Department of Ophthalmology, University Hospital Tübingen, Germany
,
Susanne Kohl
1   Department of Ophthalmology, University Hospital Tübingen, Germany
,
Melanie Kempf
1   Department of Ophthalmology, University Hospital Tübingen, Germany
,
Katarina Stingl
1   Department of Ophthalmology, University Hospital Tübingen, Germany
,
Martin Kowalski
1   Department of Ophthalmology, University Hospital Tübingen, Germany
,
Laura Kühlewein
1   Department of Ophthalmology, University Hospital Tübingen, Germany
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Introduction

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

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • 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
    PubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 12 Pearce WG, Reedyk M, Coupland SG. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 1990; 25: 3-10
    PubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar
  • 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
    CrossrefPubMedSearch in Google Scholar