AI Article Synopsis
- Biallelic mutations in the CEP290 gene can lead to retinal dystrophy and syndromic diseases, but this case highlights an unusual instance of non-syndromic juvenile retinal dystrophy that mimics achromatopsia.
- The study involved a female patient followed for 13 years, who initially exhibited symptoms and findings common to achromatopsia, and underwent various eye examinations.
- Genetic testing revealed two specific compound heterozygous variants in the CEP290 gene, underscoring the gene's role in diverse retinal phenotypes and demonstrating how it can present similarly to other retinal conditions.
Article Abstract
Purpose: Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.
Methods: We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia. The patient underwent functional and morphologic examinations, including fundus autofluorescence imaging, spectral-domain optical coherence tomography, electroretinography, color vision and visual field testing.
Results: Diagnostic genetic testing via whole genome sequencing and virtual inherited retinal disease gene panel evaluation finally identified two compound heterozygous variants c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T > C;p.(Leu805Pro) in the CEP290 gene.
Conclusions: CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638109 | PMC |
| http://dx.doi.org/10.1007/s10633-023-09940-z | DOI Listing |
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