PURPOSE: This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction. METHODS: In this study 28 patients underwent a basic ophthalmologic examination. Except for a 1-year-old boy, color vision, perimetry, and full-field ERG (ISCEV standard) were evaluated in all patients. Blood samples were taken for molecular genetic analysis of the CNGA3, CNGB3, or GNAT2 genes. RESULTS: Two patient groups could be distinguished: patients without and with residual cone function in the ERG. In 14 of 17 patients without cone function, mutations in one of the three genes were detected, and except for one patient mutations in both alleles could be determined. In these patients, visual acuity was reduced to 20/400 and color discrimination was absent. In 2 of 11 patients with residual cone function, mutations in one allele of the CNGB3 gene were detected. It is of interest that 6 of 16 patients with mutations perceived their disease as progressive; in three of them we could determine a progression. Only in 4 of 16 patients was the ocular fundus normal. The other patients with mutations presented with central pigment irregularities, attenuated vessels, or pale optic disk. CONCLUSION: In patients with congenital cone dysfunction without cone function in the ERG, an analysis of the CNGA3, CNGB3, or GNAT2 gene is advisable. In contrast, patients with residual cone function did not show clear association with mutations in one of the three genes. In patients with mutations, retinal alterations and nystagmus are frequent. In contrast to the designation of these disorders as stationary, in some patients with mutations in the CNGA3 and CNGB3 gene slow progression was observed.
PURPOSE: This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction. METHODS: In this study 28 patients underwent a basic ophthalmologic examination. Except for a 1-year-old boy, color vision, perimetry, and full-field ERG (ISCEV standard) were evaluated in all patients. Blood samples were taken for molecular genetic analysis of the CNGA3, CNGB3, or GNAT2 genes. RESULTS: Two patient groups could be distinguished: patients without and with residual cone function in the ERG. In 14 of 17 patients without cone function, mutations in one of the three genes were detected, and except for one patient mutations in both alleles could be determined. In these patients, visual acuity was reduced to 20/400 and color discrimination was absent. In 2 of 11 patients with residual cone function, mutations in one allele of the CNGB3 gene were detected. It is of interest that 6 of 16 patients with mutations perceived their disease as progressive; in three of them we could determine a progression. Only in 4 of 16 patients was the ocular fundus normal. The other patients with mutations presented with central pigment irregularities, attenuated vessels, or pale optic disk. CONCLUSION: In patients with congenital cone dysfunction without cone function in the ERG, an analysis of the CNGA3, CNGB3, or GNAT2 gene is advisable. In contrast, patients with residual cone function did not show clear association with mutations in one of the three genes. In patients with mutations, retinal alterations and nystagmus are frequent. In contrast to the designation of these disorders as stationary, in some patients with mutations in the CNGA3 and CNGB3 gene slow progression was observed.
Authors: S Kohl; B Baumann; M Broghammer; H Jägle; P Sieving; U Kellner; R Spegal; M Anastasi; E Zrenner; L T Sharpe; B Wissinger Journal: Hum Mol Genet Date: 2000-09-01 Impact factor: 6.150
Authors: B Wissinger; D Gamer; H Jägle; R Giorda; T Marx; S Mayer; S Tippmann; M Broghammer; B Jurklies; T Rosenberg; S G Jacobson; E C Sener; S Tatlipinar; C B Hoyng; C Castellan; P Bitoun; S Andreasson; G Rudolph; U Kellner; B Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; F P Cremers; E Apfelstedt-Sylla; E Zrenner; R Salati; L T Sharpe; S Kohl Journal: Am J Hum Genet Date: 2001-08-30 Impact factor: 11.025
Authors: I A Aligianis; T Forshew; S Johnson; M Michaelides; C A Johnson; R C Trembath; D M Hunt; A T Moore; E R Maher Journal: J Med Genet Date: 2002-09 Impact factor: 6.318
Authors: Duska J Sidjanin; Jennifer K Lowe; John L McElwee; Bruce S Milne; Taryn M Phippen; David R Sargan; Gustavo D Aguirre; Gregory M Acland; Elaine A Ostrander Journal: Hum Mol Genet Date: 2002-08-01 Impact factor: 6.150
Authors: S Kohl; T Marx; I Giddings; H Jägle; S G Jacobson; E Apfelstedt-Sylla; E Zrenner; L T Sharpe; B Wissinger Journal: Nat Genet Date: 1998-07 Impact factor: 38.330
Authors: Bo Chang; Tanja Grau; Susann Dangel; Ron Hurd; Bernhard Jurklies; E Cumhur Sener; Sten Andreasson; Helene Dollfus; Britta Baumann; Sylvia Bolz; Nikolai Artemyev; Susanne Kohl; John Heckenlively; Bernd Wissinger Journal: Proc Natl Acad Sci U S A Date: 2009-11-03 Impact factor: 11.205