July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I
Author Affiliations & Notes
  • Johannes Birtel
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
  • Philipp Herrmann
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
  • Sander F. Garrelfs
    Emma Children’s Hospital, Department of Pediatric Nephrology, University of Amsterdam, Amsterdam, Netherlands
  • Simon Dulz
    Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Yevgeniya Atiskova
    Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Roselie M. Diederen
    Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Netherlands
  • Martin Gliem
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Department of Clinical Neurosciences, Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Laboratory of Ophthalmology, Oxford, United Kingdom
  • Florian Brinkert
    Department of Pediatrics, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Frank G Holz
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
  • Camiel Boon
    Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Netherlands
    Department of Ophthalmology, Leiden University Medical Center, Netherlands
  • Bernd Hoppe
    Department of Pediatrics, Division of Pediatric Nephrology, University of Bonn, Germany
  • Peter Charbel Issa
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Department of Clinical Neurosciences, Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Laboratory of Ophthalmology, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships   Johannes Birtel, Heidelberg Engineering (F), Zeiss (F); Philipp Herrmann, Heidelberg Engineering (F), Zeiss (F); Sander Garrelfs, None; Simon Dulz, None; Yevgeniya Atiskova, None; Roselie Diederen, None; Martin Gliem, Heidelberg Engineering (F), Zeiss (F); Florian Brinkert, None; Frank Holz, Acucela (C), Acucela (F), Acucela (R), Allergan (F), Allergan (R), Appelis (C), Appelis (R), Bayer (C), Bayer (F), Bayer (R), Bioeq/Formycon (C), Bioeq/Formycon (F), Boehringer-Ingelheim (C), CenterVue (F), Grayburg Vision (C), Grayburg Vision (R), Heidelberg Engineering (C), Heidelberg Engineering (F), Heidelberg Engineering (R), Novartis (F), Novartis (R), Novartis (C), Roche/Genentech (C), Roche/Genentech (F), Roche/Genentech (R); Camiel Boon, None; Bernd Hoppe, None; Peter Charbel Issa, Heidelberg Engineering (F)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5424. doi:
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      Johannes Birtel, Philipp Herrmann, Sander F. Garrelfs, Simon Dulz, Yevgeniya Atiskova, Roselie M. Diederen, Martin Gliem, Florian Brinkert, Frank G Holz, Camiel Boon, Bernd Hoppe, Peter Charbel Issa; Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5424.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessively inherited disorder of the glyoxylate metabolism. It leads to an overproduction of oxalate, renal failure and is associated with oxalate deposits in renal and non-renal tissues. The typical disease course is the non-infantile form with end-stage renal disease (ESRD) by 20–30 years of age or even later in life, but the disease can also manifest as infantile oxalosis with ESRD within the first weeks of life resulting in a significantly reduced survival rate. Previously, significant retinal oxalate deposits have been described in PH1. However, the variable ocular phenotype, its severity, and associations with systemic findings are not fully understood to date. Ophthalmologic screening could be used to identify individuals with early-onset systemic deposits who may be more likely to require an aggressive therapeutic strategy.

Methods : In this cross-sectional descriptive study 64 PH1 patients, including 10 infantile oxalosis patients, from three tertiary referral centers were included. Subjects underwent ophthalmic examination including best corrected visual acuity (BCVA) testing and retinal imaging. Medical history and nephrology examination of all patients were obtained.

Results : All patients with infantile oxalosis (20 eyes) revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n=7, 35%), subretinal fibrosis (n=13, 65%) with (n=7, 54%) or without (n=6; 46%) associated chronic retinal edema. In 7 eyes (35%) BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all non-infantile PH1 patients (108 eyes) revealed normal BCVA (median 20/20). Six of the non-infantile patients (11%, all in ESRD) showed mild retinal changes which were interpreted as crystallized oxalate; two of these did not exceed the calcium oxalate plasma saturation threshold at the time of examination.

Conclusions : Severe ocular alterations occur in infantile oxalosis patients while mild or no ocular alterations are typical for non-infantile PH1 patients. Plasma oxalate levels and kidney function (exception infantile oxalosis) are not directly associated with retinal pathology. In light of clinical trials longitudinal studies will be needed to determine factors influencing the onset and natural history of crystallization.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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