FIGURE 2.

Variation in structural and functional changes due to inherited retinal disease. Case 1 (A–D) was a 51-year-old Indonesian male with retinitis pigmentosa secondary to PRPH2 mutation. Retinal findings include diffuse peripheral RPE atrophy seen on color and autofluorescent imaging (A,B) with sparing of the central macula (B) and a small focus of foveal outer retina intact on OCT imaging (C). Visual acuity was only mildly impaired, but the patient had tunnel vision as demonstrated by Goldmann kinetic perimetry (D). Case 2 (E–H) was a 21-year-old Chinese male with cone dystrophy secondary to PROM1 mutation. Retinal findings are limited to subtle pigmentary changes at the macula (E) which are highlighted on autofluorescent imaging (F), while OCT reveals loss of the outer retina at the foveal region (G). Visual fields are largely preserved but the patient had severely impaired visual acuity (H).