Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Figure 2

Fundoscopic photographs of twins affected by Leber congenital amaurosis. When the twins (II-1 and II-2) were 11 months old (II-1 right eye: (a1), II-1 left eye: (a2), II-2 right eye: (a3), and II-2 left eye: (a4)), they had mild retinal pigment epithelium changes around the optic disc and slight narrowing of the retinal vessels. Neither pigmentary changes nor macular degeneration were observed in either twin. When the twins were 29 months old (II-1 right eye: (b1), II-1 left eye: (b2), II-2 right eye: (b3), and II-2 left eye: (b4)), no further retinal changes had occurred.

(a)

(b)