Your browser doesn't support javascript.
loading
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen, Mette Kjøbæk Gundestrup; Bertelsen, Mette; Grønskov, Karen; Kohl, Susanne; Kessel, Line.
Afiliación
  • Andersen MKG; Department of Ophthalmology, Copenhagen University Hospital-Rigshospitalet, 2600 Glostrup, Denmark.
  • Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, 2100 Copenhagen, Denmark.
  • Grønskov K; Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, 2100 Copenhagen, Denmark.
  • Kohl S; Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.
  • Kessel L; Department of Ophthalmology, Copenhagen University Hospital-Rigshospitalet, 2600 Glostrup, Denmark.
Genes (Basel) ; 14(3)2023 03 10.
Article en En | MEDLINE | ID: mdl-36980963
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regarding possible progression over time, and there is no clear genotype-phenotype correlation. This natural history study aimed to further explore the course of disease and potential clinical differences between various genotypes. The retrospective design allowed for the study of a large cohort with a long follow-up. Patients were identified from the Danish national registries. If not already available, genetic analysis was offered to the patient. Clinical data from 1945-2022 were retrieved from medical records and included best-corrected visual acuity (BCVA), color vision, refractive error, nystagmus, visual fields and fundoscopic findings. We identified variants believed to be disease causing in five of the known achromatopsia genes: CNGA3; CNGB3; GNAT2; PDE6C and PDE6H; and novel variants were identified in CNGB3 and PDE6C. Progressive deterioration of BCVA only attributable to achromatopsia was found in three of 58 patients. Progressive phenotype was seen with variants in CNGB3 and PDE6C. The results indicate that myopia could be more frequently occurring with variants in GNAT2, PDE6C and PDE6H and support the evidence that achromatopsia is a predominantly stationary condition with respect to BCVA. Although a clear genotype-phenotype correlation can still not be concluded, there may be differences in phenotypical characteristics with variants in different genes.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Suiza