Table 1 Clinical presentation of the two younger siblings

1

12 years

Male

CF/0.16

S + 8.00 C −1.00×10°

/

S + 8.00 C −4.00×175°

No

18.30/18.35

Foveal atrophy, nummular pigmentations, moderate vascular attenuation (Fig. 3a, b)

Cone-rod dystrophy, LCA

Decreased foveal thickness (Fig. 3c)

2

2 years

Male

N/A

S + 10.00 C −2.25×125°/

S + 10.00 C−2.50×25°

No

18.40/18.35

Foveal atrophy (Fig. 4)

Leber congenital amaurosis, cone-rode dystrophy

N/A