Table 2 of
Varsanyi, Mol Vis 2005;
11:996-1001.Table 2 of
Varsanyi, Mol Vis 2005;
11:996-1001.
Table 2. Clinical findings in Hungarian achromatopsia patients
Clinical diagnoses of patients in this study were based on photophobia, nystagmus, low visual acuity, and color vision tests and electroretinography. The patients presented with a clinical picture typical for congenital achromatopsia. There were no significant differences in the phenotypes of subjects with CNGA3 or CNGB3 mutations. Photophobia and nystagmus were graded as slight (+), moderate (++), and severe (+++). All patients listed had preserved responses for the scotopic ERG, but their responses to the photopic and 30 Hz Flicker ERGs were extinguished. Patients D/II:1 and F/II:1 were too young to assess their color vision; all other patients listed lacked color discrimination. Visual acuity could not be assessed in patient F/II:1.
Visual
acuity
(right/
Family Patient Age Gender Photophobia left eye) Nystagmus Gene Allele 1 Allele 2
------ ------- --- ------ ----------- --------- --------- ----- --------- ---------
B I:1 63 Female + + 0.2 /0.2 + CNGA3 Phe547Leu Phe547Leu
D II:1 4 Male + + + 0.15/0.15 + CNGA3 Arg283Trp Phe547Leu
E III:1 11 Female + + + 0.1 /0.1 + + + CNGA3 Pro163Leu Arg283Trp
E III:2 8 Male + + + 0.03/0.1 + + + CNGA3 Pro163Leu Arg283Trp
E II:2 38 Female + + 0.1 /0.15 + + + CNGA3 Arg283Trp Arg283Trp
F II:1 3 Male + + + + + CNGA3 Phe547Leu Phe547Leu
A II:1 36 Male + + + 0.2 /0.1 + + CNGB3 Thr383fs Thr383fs
C II:1 10 Male + + 0.1 /0.1 + + + CNGB3 Thr383fs Thr383fs
G I:1 65 Male + + 0.2 /0.2 + CNGB3 Thr383fs Splice
mutation
H II:1 12 Female + + + 0.1 /0.1 + + + CNGB3 Gln38X Pro273fs
H II:2 9 Male + + + 0.1 /0.1 + + + CNGB3 Gln38X Pro273fs
I II:1 22 Male + + + 0.2 /0.06 + + + CNGB3 Pro273fs Thr383fs
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