Member info
Line Kessel
Denmark
Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8)
HCP Center
Rigshospitalet is Denmark's international hospital, which offers highly specialized treatment of citizens in Denmark, the Faroe Islands and...
contact
Rigshospitalet, Copenhagen, Denmark
Inge Lehmanns Vej 7 Entrance 2, 6. floor Section 2061
2100 Copenhagen
Denmark
Scientific publications
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia,...
Genetic and Clinical Characterization of Danish Achromatopsia Patients
Although a clear genotype-phenotype correlation can still not be concluded, there may be differences in phenotypical characteristics with variants...