Research Article

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity

Table 1

Summary of longitudinal ophthalmological data in the Index case, her affected sister, and their father.

Patient, sex
Age at examination
Visual AcuityRefractionFundus photographyFundus Auto fluorescenceSD-OCTGanzfeld ERGNight Vision, Nystagmus
Photophobia
Strabismus
Visual field

2837.01, f
4.25 y
0.12/0.12RE −12.0/−2.25/167
LE −11.25/−2.5/6
Ny, SExp
4.7 y0.2/0.12RE −14.75/−2.5/157
LE −12.25/−2.5/5
Figure 2(a)npscot. Aa=, Ab↓↓, a/b↓↓
phot. Aa↓, Ab↓↓, b/a↓, Figure 3
30 Hz: ↓↓
Ny, SExp
5.4 y0.2/0.4RE −11.5/−2.25/174
LE −11.0/−3.0/10
npNyGVF: concentric reduction (data not shown)
7.25 y0.16/0.2RE −12.0/−2.0/165
LE −11.5/−2.5/180
myopic fundusnpFigure 5(a)GVF: concentric reduction, Figure 4(a)

2837.04, f
2.2 y
TAC
0.03/0.1
RE −10.75/−2.75/161
LE −8.75/−2.75/10
scot. A↓↓,
phot. A↓↓, b/a↓↓, inner retinal changes, Figure 3
30 Hz: ↓↓
4.2 yLEA
0.25/0.32
RE −6.75/−3.25/161
LE −5.75/−2.25/180
myopic fundusnpFigure 5(b)

2837.03, m
20.9 y
0.5/0.5RE −1.0/−2.25/172
LE −0.25/−1.75/164
NB, P, SExt
26.75 y0.5/0.5RE −0.75/−2.5/177
LE 0/−2.0/173
Figure 2(b)Figure 2(c)Figure 5(c)scot. Aa=, Ab↓
phot. Aa=, Ab↓↓, b/a↓,
30 Hz: ↓ Figure 3
NB, P, SExt
27.5 y0.5/0.4RE −1.0/−3.0/179
LE −0.5/−2.0/170
GVF: III/4: slight temporal constriction, Figure 4(b)
28.75 y0.53/0.5RE −0.75/−2.5/175
LE 0.0/−1.5/165
MP1: scotopic ↓↓, Figure 4(f)
Photopic: III/4: unremarkable, Figure 4(d),
I/4: ↓↓, Figure 4(e)

A: amplitude, Aa: amplitude a-wave, Ab: amplitude b-wave, b/a: ratio b-wave/a-wave, 30 Hz: 30 Hertz flicker response, GVF: Goldmann visual field, LEA: LEA Symbols®, MP1: fundus controlled microperimetry, NB: night blindness, Ny: Nystagmus, P: Photophobia, phot.: photopic, scot.: scotopic, SExp: Strabismus: Exophoria, SExt: Strabismus: Exotropia, TAC: Teller Acuity Cards, ↓: reduced, ↓↓: severely reduced, ↓↓↓: below threshold, borderline, f: female, m: male, np: not possible.