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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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