{Reference Type}: Case Reports
{Title}: An early onset cone dystrophy due to CEP290 mutation: a case report.
{Author}: Binder A;Kohl S;Grasshoff U;Schäferhoff K;Stingl K;
{Journal}: Doc Ophthalmol
{Volume}: 147
{Issue}: 3
{Year}: 2023 12 29
{Factor}: 1.854
{DOI}: 10.1007/s10633-023-09940-z
{Abstract}: 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.<BR>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.<BR>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.<BR>CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.