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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.

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