Figure 1
From: Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Clinical detail of the phenotype of individual II:1 from Family 3. (a and b) AI affecting the primary and secondary dentitions with a generalised reduced enamel volume (hypoplasia) and variable hypomineralisation, which is a feature particularly evident in the lower left permanent first molar tooth (white arrow). (c – e) The figures detail the phenotype of the right eye. (c) Fundus image showing pigmentary maculopathy and mild retina vascular attenuation. (d) Optical coherence tomography showing depletion of photoreceptors in the perifovea and disruption of the outer nuclear layer. (e) Fundus autofluorescence showing hyperfluorescence at the perifovea.
