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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Expanding the clinical and genetic spectrum of Heimler syndrome

Fig. 3

Ocular features of patient 2. a Ultra wide-field pseudocolor images showing retinal atrophy in the mid and far periphery combined with significant bone spicule-like pigmentation, mottling in both eyes. b SD-OCT shows bilateral cystoid macular edema, which mainly involved the outer nuclear layer (ONL). The foveal and peripheral macular ellipsoid zone (EZ) was disrupted and almost absent. c Visual field shows peripheral visual field loss except for the superior nasal quadrant. d mfERG shows undetectable rod ERG, subnormal bright flash ERG, and subnormal and delayed cone ERG

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