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TitreIdentification of CNGA3 variants in a child with a maculopathy, normal photopic ERG and near normal color vision
Abstract Nr.3025
ButTo unravel the genetic diagnosis in a 9-year old child with a maculopathy.
Méthodes The patient had a standard ophthalmic examination, Octopus perimetry, optical coherence tomography (OCT) scan, fundus autofluorescence (FAF) and ISCEV full-field ERG. Genetic testing consisted of analysis of a panel of retinal dystrophy genes (RetNet panel) using exome sequencing.
RésultatsThe visual acuity was decreased: OD(S-2)=0.4,OS(S-2)=0.5. FAF showed a clear foveal lesion and perimetry showed several relative scotomas. Color vision was near normal. OCT showed a disruption of the ellipsoid zone and interruption of the outer segments. Photopic and scotopic ERG was normal, mfERG showed abnormalities, more specifically central rings. Photophobia was only seen with flash ERG. RetNet panel analysis revealed a heterozygous likely pathogenic missense variant in CNGA3: c.830 G>A p.(Arg277His). In addition, a second heterozygous missense CNGA3 variant was found of which the significance is unclear: c.811 C>G p.(Pro271Ala). Both parents were heterozygous carrier of a CNGA3 variant, demonstrating both variants occur in trans.
ConclusionThe CNGA3 genotype is a likely explanation of the phenotype observed. We expand the phenotypic spectrum of CNGA3-associated retinal dystrophies.
Conflit d'intérêtNon
Auteur 1
NomDE VRIES
InitialesMJ
InstitutUniversitair Kinderziekenhuis Koningin Fabiola
VilleBrussel
Auteur 2
NomVan Genderen
InitialesMM
InstitutBartiméus en Universitair Medisch Centrum Utrecht
VilleZeist en Utrecht
Auteur 3
NomPostolache
InitialesL
InstitutUniversitair Kinderziekenhuis Koningin Fabiola
VilleBrussel
Auteur 4
NomDe Baere
InitialesE
InstitutCenter for Medical Genetics, Ghent University and Ghent University Hospital
VilleGent
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