Programm & Abstracts                 "Innovationen in der Augenheilkunde"

Aktuelle Tagungsinformationen
   News and Updates

Anmeldung zur Tagung
   Hotel Registration
   Welcome address
Beteiligte Gesellschaften
   Societies involved
Eröffnung des Kongresses
   Opening Ceremony
Wissenschaftliches Programm
   Scientific program
   Poster Presentation
Begleitende Veranstaltungen
   Collateral Events
   Social program
   Jubilee Party
DOG Information
   DOG Information
Allgemeine Informationen
   General Information
   Index of Authors
   Registration fees

DOG Homepage

Cone Dysfunction in Association with Mutations in Genes for Subunits of the Cone-specific cGMP-regulated Ion Channel (CNGA3 & CNGB3)

1Kellner U., 2Wissinger B., 2Kohl S., 1Kraus H., 1Foerster M. H.,
1Freie Universität Berlin, Klinikum Benjamin Franklin, Augenklinik (Berlin)
2Universitäts-Augenklinik Tübingen, Molekulargenetisches Labor (Tübingen)

Purpose: Congenital cone dysfunction can be associated with mutations in various genes. In 14/22 patients who gave consent for molecular genetic analysis mutations in the genes for the alpha- and beta-subunit of cone-specific cGMP gated channels were detected. Purpose of this study is to present clinical and genetic findings.
Methods: All patients underwent basic ophthalmologic examination, visual field testing, colour vision testing, and recording of full-field-ERG (ISCEV standard) and molecular genetic analysis of CNGA3- and/or CNGB3-gene.
Results: 4/14 of the patients were women. Four patients (2 families) had mutations in the CNGA3-gene and 10 patients (8 families) mutations in the CNGB3-gene. In 11/14 patients mutations in both allels were detected. The age at first examination was between 1 and 65 years of age. Based on the nystagmus the age of onset was congenital in 12/14 patients. 5 patients reported progression. Visual acuity varied between HM and 0.1 (refraction: -4,0 to +7,0 D). In 2/14 patients ophthalmoscopy revealed normal findings; the other patients presented with pigment epithelial irregularities, narrowed vessels or pale disks. Colour vision was severely abnormal. In the full field ERG cone function was none recordable in 12/14 cases. In 2 patients with a mutation on one allel only cone function was measurable in the ERG and the onset was in at 35 and 65 years of age.
Conclusions: Mutations in the CNGA3- and CNGB3-genes are associated with congenital stationary complete cone dysfunction (achromatopsia). Slow progression of functional loss may occur. Occasionally a heterozygous state may be associated with less severity and later onset of cone dysfunction.