Table 4. Clinical phenotypes of affected individuals carrying two novel causal variants.

Fam. ID	Gene	Origin	Gender	Age at disease presentation	Refraction LE/RE (Age)	Nystagmus	ERG (age)	Fundus	Other pathology
2	CRB1	Denmark	F	3 Years	+6.0/+5.5 (6)	No	Nearly extinct (6)	Early bull's eye maculopathy and later nummulate pigmentations and attenuated vessels	None
21	RPE65	Denmark	F	Congenital	+7 (22)	Yes	Extinct (1)	Attenuated vessels, no hyperpigmentation	Epilepsia
46	RPE65	Denmark	M	Congenital	−4.0/−4.0 (20)	Yes	Extinct (1)	Attenuated vessels, no hyperpigmentation	None
55	RPE65	Denmark	F	Congenital	−1/+2 (1)	Yes	Extinct (1)	Attenuated vessels and muddy retinal pigmentation	None
71	GUCY2D	Denmark	F	Congenital	+6/+6 (1)	Yes	Extinct (1)	Attenuated vessels and muddy retinal pigmentation	None
79	RPE65	Denmark	F	Congenital	−2/−3.25 (1)	Yes	Extinct cone response and reduced rod response (1)	Attenuated vessels and pale optic nerve	None
81	RPGRIP1	Pakistan	F	1 Year	+5.5/+6.0 (1)	Yes	Extinct (3)	Attenuated vessels and no hyperpigmentation	None
86	RPE65	Jordan	M	2 Years	−1.5/−2.0 (15)	Yes	Extinct (17)	Attenuated vessels, atrophic optic nerve and bone spicule pigmentations	None