CC BY-NC-ND 4.0 · Klin Monbl Augenheilkd 2023; 240(04): 505-508
DOI: 10.1055/a-2034-6314
Der interessante Fall

Acute Ocular Complications after Recently Diagnosed Goodpastureʼs Syndrome – An Unusual Case of Hypertensive Retinopathy

Akute okuläre Komplikationen nach kürzlich diagnostiziertem Goodpasture-Syndrom – ein ungewöhnlicher Fall von hypertensiver Retinopathie
Leila Sara Eppenberger
1   Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland
2   Health Sciences and Technology, ETH Zurich, Zurich, Switzerland
,
Martin K. Schmid
1   Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland
3   Faculty of Health Sciences and Medicine, University of Lucerne, Lucerne, Switzerland
,
Michele Clerici
1   Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland
› Author Affiliations

Introduction

Ernest Goodpasture first identified Goodpastureʼs syndrome (GS) in 1919. It is a rare disease with an estimated incidence of about 0.5 – 1 case per million per year. GS most frequently occurs in two age ranges, 20 – 30 years and 60 – 70 years, and typically includes the following triad: acute renal failure, pulmonary hemorrhage, and presence of anti-glomerular basement membrane (anti-GBM) antibodies. Although the overall incidence is relatively low, GS is the cause of approximately one-fifth of all cases of acute renal failure with rapidly progressive glomerulonephritis. If accompanied by pulmonary hemorrhage or secondary malignant hypertension, the disease may be life-threatening [1].

A deeper understanding of GS was gained after the discovery of the anti-GBM antibodies binding reactive epitopes in the basement membranes of the kidneys and lungs, causing activation of the complement cascade, lastly resulting in tissue damage. These antigens are found in other specialized basement membranes, including Bruchʼs membrane, but clinically only the glomerular and alveolar basement membranes are usually affected. The reason for this seems to be the greater expression and accessibility of epitopes of the NC1 domain of the alpha 3 chain of type IV collagen units in these tissues [2], [3].

The exact cause of GS is still unknown. Genetics with an increased prevalence of HLA-DR15 and HLA-DRB1 and also certain behavioral and environmental factors (e.g., exposure to metallic dust, tobacco smoke, as well as lymphocyte depletion therapy, e.g., alemtuzumab) are thought to increase the risk [4].

GS symptoms can develop gradually, or rapidly in as little as a few days. Sixty to eighty percent of patients have clinical manifestation of both pulmonary and renal disease, 20 – 40% have renal disease alone, and less than 10% develop only lung disease. Some cases have been reported to develop autoimmune inner ear disease (AIED), presenting with sudden hearing loss [5], [6].

A kidney biopsy delivers a definitive diagnosis. Serologic assays for anti-GBM antibodies are important for initial diagnosis and monitoring of the disease treatment. The therapy involves rapid removal of circulating antibodies, primarily by plasmapheresis, as well as immunosuppression (e.g., corticosteroids and cyclophosphamide) to reduce the new production of antibodies. Currently, a 5-year survival of 80% can be reached with this treatment [4].

While systematic clinical data is missing about GS, numerous case reports and small case series have been published. However, only a few address or include potential ophthalmic manifestations of the syndrome [7], [8], [9], [10], [11], [12], [13], [14], [15].

Overall, there are two potential pathophysiological pathways by which GS can lead to ocular symptoms. On the one hand, GS involves anti-basement membrane auto-antibodies, which could lead to primary changes to eye structures due to immunoglobulin deposition in the basement membranes. On the other hand, GS can cause secondary complications, such as severe arterial hypertension, which may lead to vascular and structural changes in the ocular tissue [10].

In the following description, ocular findings in a young patient with GS are carefully described.



Publication History

Received: 17 October 2022

Accepted: 22 January 2023

Article published online:
25 April 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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