Johannes Birtel1, Philipp Herrmann1, Sander F Garrelfs2, Simon Dulz3, Yevgeniya Atiskova3, Roselie M Diederen4, Martin Gliem5, Florian Brinkert6, Frank G Holz1, Camiel J F Boon7, Bernd Hoppe8, Peter Charbel Issa9. 1. Department of Ophthalmology, University of Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany. 2. Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Nephrology, Amsterdam, The Netherlands; OxalEurope, The European Hyperoxaluria Consortium, Cologne, Germany. 3. Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 4. Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. 5. Department of Ophthalmology, University of Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. 6. Department of Pediatrics, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 7. Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. 8. Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany; OxalEurope, The European Hyperoxaluria Consortium, Cologne, Germany; Department of Pediatrics, Division of Pediatric Nephrology, University of Bonn, Bonn, Germany. 9. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. Electronic address: study-enquiry@outlook.com.
Abstract
PURPOSE: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity. DESIGN: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network. METHODS: Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed. RESULTS: All eyes (n = 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images. CONCLUSIONS: Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.
PURPOSE: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity. DESIGN: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network. METHODS: Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed. RESULTS: All eyes (n = 24) of infantile PH1patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images. CONCLUSIONS: Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.
Authors: Lars Pape; Thurid Ahlenstiel-Grunow; Johannes Birtel; Tim U Krohne; Bernd Hoppe Journal: Pediatr Nephrol Date: 2020-02-27 Impact factor: 3.714
Authors: Lisa J Deesker; Sander F Garrelfs; Giorgia Mandrile; Michiel J S Oosterveld; Pierre Cochat; Georges Deschênes; Jérôme Harambat; Sally-Anne Hulton; Asheeta Gupta; Bernd Hoppe; Bodo B Beck; Laure Collard; Rezan Topaloglu; Larisa Prikhodina; Eduardo Salido; Thomas Neuhaus; Jaap W Groothoff; Justine Bacchetta Journal: Kidney Int Rep Date: 2022-04-20