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. Author manuscript; available in PMC: 2018 Jul 1.
Published in final edited form as: Ophthalmology. 2017 Apr 13;124(7):992–1003. doi: 10.1016/j.ophtha.2017.03.010

Figure 2.

Figure 2

Retinal imaging data for patients with IDH3A variants.

(Wide-field) color fundus photographs, optical coherence tomography OCT and fundus autofluorescence (FAF) imaging with fundus-camera-based autofluorescence photography or confocal scanning laser ophthalmoscopy (cSLO).

Patient A-II:1 at age 7 y, (A) pink optic discs, mildly attenuated blood vessels, RPE alterations in the fovea and periphery, (B) small central disruptions in the ellipsoid zone, (C) intact autofluorescence of the posterior pole.

Patient A-II:2 at age 3 y, (D) distinct atrophy of the RPE and choriocapillaris in the macular region demarcated by a hyperpigmented ring, peripheral RPE alterations, (E) atrophy of the RPE, abnormal outer retinal layers.

Patient B-II:1 at age 18 y, (F) mid-peripheral atrophy with bone spicule-like pigmentation nasal>temporal, OS>OD, (G) bilateral severe cystoid macular edema (RE>LE) with thickening of the retina and loss of normal foveal structure, thinning and loss of the photoreceptor nuclei layer (ONL) is evident in the para-macular regions of the scans, (H) hyper-autofluorescent ring around the fovea.

Patient B-II:2 at age 15 y, (I) mid-peripheral atrophy with bone spicule-like pigmentation nasal>temporal, OS>OD, (J) presence of the photoreceptor nuclei layer in the fovea without edema, but marked thinning and loss of the ONL is evident in para-macular regions, (K) prominent hyper-autofluorescent ring surrounding the center of the macula.

Patient C-II:1 at age 20 y, (L) pale aspect of the optic disc, attenuated blood vessels, RPE alterations from mid-periphery towards the far periphery, (M) extensive peripheral atrophy of the outer segments and distortion of the foveal architecture.

Patient D-II:2 at age 26 y, (N) peripheral bone-spicule pigmentary changes, peripheral and mid-peripheral pigmentary retinopathy, macular pigmentation with severe pseudocoloboma-like atrophy, mild arteriolar narrowing and mild optic atrophy, (O) macular atrophy with lamellar disorganization, (P) strongly reduced autofluorescence within the macula, diffusely increasing in a broad ring around the macula, and fading towards the periphery.