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Klin Monbl Augenheilkd 2024; 241(04): 482-484
DOI: 10.1055/a-2229-2877
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Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene

Gefleckte Retina nach Kandori ist mit einer De-novo-Mutation einer heterozygoten Variante im CAMK2A-Gen assoziiert
Nathalie Voide 
1   Ophthalmology, Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
,
Manon Macherel
2   Neuropediatrician, developmental pediatrics practice, Lausanne, Switzerland
,
Emmanuelle Ranza
3   Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland
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Background

Fleck retina of Kandori (FRK) was first described in 1958 as a congenital stationary night blindness without decreased visual acuity. It is defined as a possible focal disturbance of the retinal pigment epithelium (RPE) causing focal, irregular, sharply defined, yellow white flecks of various sizes on the mid-periphery of the retina, sparing the macula, the optic nerve, and the vessels [1], [2].



Publication History

Received: 29 October 2023

Accepted: 05 December 2023

Article published online:
23 April 2024

© 2024. Thieme. All rights reserved.

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  • References

  • 1 Kandori F, Tamai A, Kurimoto S. et al. Fleck retina. Am J Ophthalmol 1972; 73: 673-685
    CrossrefPubMedGoogle Scholar
  • 2 Bailey Freund K, Sarraf D, Mieler WF. et al. The Retinal Atlas. 2 nd ed. Elsevier; 2016: 467-468
    Google Scholar
  • 3 Fried M, Meyer-Schwickerath G. Report of a case resembling the ‘fleck’ retina of Kandori with ectodermal peculiarities and macula degeneration. Albrecht Von Graefes Arch Klin Exp Ophthalmol 1979; 211: 307-311
    CrossrefPubMedGoogle Scholar
  • 4 Audo I, Tsang SH, Fu AD. et al. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol 2007; 125: 714-715
    CrossrefPubMedGoogle Scholar
  • 5 Choi BY, Kim SW, Yun C. et al. Multimodal imaging of fleck retina of Kandori. Retina 2022; 42: e28-e29
    CrossrefPubMedGoogle Scholar
  • 6 Küry S, van Woerden GM, Besnard T. et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet 2017; 101: 768-788
    CrossrefPubMedGoogle Scholar
  • 7 Kool MJ, Proietti Onori M, Borgesius NZ. et al. CAMK2-Dependent Signaling in Neurons Is Essential for Survival. J Neurosci 2019; 39: 5424-5439
    CrossrefPubMedGoogle Scholar
  • 8 Fujii H, Kidokoro H, Kondo Y. et al. Förster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIa activity in de novo mutations related to intellectual disability. Front Mol Neurosci 2022; 15: 970031
    CrossrefPubMedGoogle Scholar
  • 9 Stephenson JR, Wang X, Perfitt TL. et al. A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. J Neurosci 2017; 37: 2216-2233
    CrossrefPubMedGoogle Scholar
  • 10 Akita T, Aoto K, Kato M. et al. De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. Ann Clin Transl Neurol 2018; 5: 280-296
    CrossrefPubMedGoogle Scholar