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An early onset cone dystrophy due to CEP290 mutation: a case report
Anastasia Binder1, Susanne Kohl2, Ute Grasshoff3
1Augencentrum Südwest, Seestrasse 59B, 70174, Stuttgart, Germany.
Documenta Ophthalmologica. Advances in Ophthalmology
|August 29, 2023
Summary
Biallelic CEP290 gene mutations can cause juvenile retinal dystrophy. This case mimicked achromatopsia and cone dystrophy, highlighting CEP290's diverse clinical presentations.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Biallelic mutations in the CEP290 gene are known to cause early-onset retinal dystrophies and syndromic conditions like Senior-Loken and Joubert syndrome.
- The clinical spectrum associated with CEP290 mutations is broad, often involving syndromic presentations.
Observation:
- A case of juvenile retinal dystrophy is presented with a 13-year follow-up.
- The patient initially presented with symptoms and findings characteristic of achromatopsia.
- Examinations included fundus autofluorescence, OCT, electroretinography, and visual testing.
Findings:
- Genetic testing identified compound heterozygous variants in the CEP290 gene: c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T>C;p.(Leu805Pro).
- These variants were confirmed via whole genome sequencing and a retinal disease gene panel.
- The identified mutations in CEP290 led to a non-syndromic juvenile retinal dystrophy.
Implications:
- This case expands the known phenotypic spectrum of CEP290 mutations.
- The findings suggest that CEP290 mutations can present as a slowly progressing cone dystrophy or achromatopsia-like phenotype.
- Accurate genetic diagnosis is crucial for understanding the diverse manifestations of CEP290-related retinal disorders.
