An early onset cone dystrophy due to CEP290 mutation: a case report.
Doc Ophthalmol
; 147(3): 203-209, 2023 12.
Article
en En
| MEDLINE
| ID: mdl-37642804
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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Defectos de la Visión Cromática
/
Distrofias Retinianas
/
Distrofia del Cono
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Doc Ophthalmol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Alemania