Table 2 of Ostergaard, Mol Vis 2011; 17:1485-1492.


Table 2. Clinical findings in six homozygous and one heterozygous individuals carrying the Faroese MERK founder mutation.


ID
Age of
onset
Age at
first/last exam
Visual acuity
at first exam
Visual acuity
at last exam
Refraction
right
Refraction
left
Full-field
ERG (ffERG)
Perimetry
(age)
Dark
adaptation
186 9 16/32 6/12
6/12 1/60
1/60 +2.50–1.50x10° +2.50–0.50x170° Flat TV 2–3° (32) No rod activity
232 8 9/35 6/7.5
6/9 6/60
0.5/60 −4.50–3.00x0° −4.50–3.00x0° Flat Paracentral islands (35) No rod activity
113 6 24/32 6/36
6/24 HM
0.5/24 Emmetropia Emmetropia N.d. TV 1–2° N.d.
106 5 6/30 6/6
6/9 1/69
1/60 +0.50 0.00–1.25x160° Sub
normal TV 3–5° N.d.
102 10 24/27 2/60
3/60 1/60
1/60 Emmetropia Emmetropia N.d. TV 5° plus peripheral islands N.d.
249* 8 6/35 6/6
6/6 6/12
6/18 −6.00–0.50x90° −6.50 Reduced‡ 20–50° Diphasic. Threshold elevation 1 log unit