Table 1.

Clinical, electrophysiological and psychophysical data

MV, born 2001 RPE65 mutation homozygous P25L			At 3 years	At 4.5 years	At 6/7 years
BCVA OD / OS			1.2 / 1.0 LEA 3m	1.2 / 1.0 LEA 3m	0.63 / 0.63 E
Refraction			OD +3.0 sph OS +3.0 sph	OD +2.5 sph / −0.5 cyl A0° OS +2.75 sph	OD +0.5 / −0.25 cyl A32° OS +0.75 / − 0.25 <A80°
Fundus			Relatively “blond” fundus (Fig. 1A)	“Blond” fundus and increased visibility of choroidal vessels	Small macular reflex (Fig. 1B)
Goldmann Visual Field - OD + OS			nd	nd	V/4e, III/4e normal I/4e slightly constricted*
2CT perimetry 30° OS			nd	nd	Dark adapted: mostly cone mediation Light adapted. CSL 1.5 log (Fig. 2)
Fullfield ERG					Fig. 5
Scotopic Maximal Response	Ampl	OD OS	Minimal residual Minimal residual	16% / 21% 22% / 26%	Minimal residual 25% / 15%
	Impl	OD OS		√ √	√
Photopic 30 Hz-Flicker	Ampl	OD OS	7% 12%	50% 50%	50% 50%
	Impl	OD OS	√ √	√ √	√ √
Photopic Single Flash	Ampl	OD OS	9% / 15% 16% / 23%	32% / 34% 30% / 33%	41% / 51% 15% / 26%
	Impl	OD OS	√ √	√ √	√ √
Lanthony Panel D15 OD + OS			nd	nd	Saturated normal Desaturated very few errors along blue axis
FAF OD + OS			Very low (Fig. 1C)	Very low	Very low (Fig. 1C, middle)
OCT Stratus			Layering grossly preserved (Fig. 2B)	Layering preserved	Layering grossly preserved (Fig 2C)
OCT Spectralis HRA-OCT					Altered layering outer retina + thinning (Figure 2D)

CSL, cone Sensitivity loss; nd, not done; sph, spheric; cyl, cylinder; LEA, Lea cards; E, E-signs; √, within normal range.