File:PMC5026821 ejhg201662f1.png

License

Attribution 4.0 International (CC BY 4.0)

Summary

Author:Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, and Chris F Inglehearn Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds,Sidney Kimmel Medical College at Thomas Jefferson University,Children's Hospital of the King's Daughters, Pediatric Ophthalmology and Ocular Genetics, Department of Clinical Genetics, Northampton General Hospital, NHS Trust Rappaport Faculty of Medicine, Technion, Haifa,The Genetic Institute and Obstetrics and Gynaecology Department, Meir Medical Center, Kfar Saba,Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, School of Dentistry, Department of Oral Biology, St. James's University Hospital, University of Leeds, Department of Oral Medicine, School of Dentistry, University of Leeds Source:https://openi.nlm.nih.gov/detailedresult?img=PMC5026821_ejhg201662f1&query=Zellweger%20syndrome&it=xg&req=4&npos=74 Description: fig1: 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.