PMC5693023_01
Fundus and optical coherence tomography findings in a 17-year-old patient with heterozygous deletion in OTX2. Color fundus (A: Central fundus. B: Wide field imaging including the peripheral retina) images of the right eye show atypical maculopathy (A), and mid-peripheral pigmentation with mild arteriolar attenuation (B). C: Transfoveal optical coherence tomography scan shows intraretinal hyperreflective scar (blue arrow), intraretinal cyst-like spaces (yellow arrow), RPE changes (red arrow), and foveal atrophy. The hyperreflective lesions may represent RPE hyperplasia and migration; however, there is no sign of lipofuscin deposition such as that seen in macular pattern dystrophy.
mv-v23-778-f1.jpg
PMC5693023_01_mv-v23-778-f1.jpg
f1
Fundus photography revealed dense intraretinal macular pigmentation as can be seen in pattern dystrophy and mid-peripheral pigmentation with mild arteriolar attenuation (Figure 1A,B). OCT transfoveal scans showed unusual intraretinal pigment scars, which may represent RPE hyperplasia and migration; however, there was no sign of lipofuscin deposition such as that seen in macular pattern dystrophy (Figure 1C, lower panel).
Full-field electroretinogram in a now 17-year-old patient with a heterozygous deletion in OTX2. The full-field electroretinogram of the right eye at age 5 years and 14 years shows nonrecordable rod responses and severely reduced cone responses, compared to normal). ms = milliseconds; microV = microvolts.
mv-v23-778-f2.jpg
PMC5693023_01_mv-v23-778-f2.jpg
f2
FfERG performed at age 5 years (under sedation) and at 14 years showed non-recordable rod responses and severely reduced and delayed cone responses, atypical for pattern dystrophy, compatible with rod-cone dystrophy with atypical maculopathy (Figure 2).