Fig. 2
From: Expanding the clinical and genetic spectrum of Heimler syndrome
Ocular features of patient 1. a Ultra wide-field pseudocolor images showing retinal atrophy in the mid and far periphery combined with significant bone spicule-like pigmentation and mottling in both eyes. b SD-OCT shows small macular cysts in the inner nuclear layer, a thickened retina, and an atrophic photoreceptor layer with preservation of the ellipsoid zone (EZ) and the external limiting membrane (ELM). c Visual field shows peripheral visual field loss, with small central loss. d mfERG shows that amplitudes in the posterior-pole of both eyes were significantly reduced, more seriously in the right eye