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Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series
  1. Serge Bourgault1,2,
  2. Catherine Baril1,2,
  3. Ajoy Vincent3,4,
  4. Elise Héon3,4,
  5. Asim Ali3,4,
  6. Ian MacDonald5,
  7. Gregg T Lueder6,
  8. Kevin M Colleaux7,8,
  9. Isabelle Laliberté1,9
  1. 1Département d'ophtalmologie et ORL-Chirurgie cervico-faciale, Faculté de médecine, Université Laval, Québec, Quebec, Canada
  2. 2Centre universitaire d'ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec, Québec, Quebec, Canada
  3. 3Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  4. 4Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
  5. 5Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada
  6. 6Departments of Ophthalmology and Visual Sciences and Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
  7. 7Department of Ophthalmology, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
  8. 8Saskatoon Retina Consultants, Saskatoon, Saskatchewan, Canada
  9. 9Centre mére-enfant Soleil, CHUL, CHU de Québec, Québec, Quebec, Canada
  1. Correspondence to Dr Serge Bourgault, Hôpital du Saint-Sacrement, 1050 Chemin Sainte-Foy, Québec, QC, Canada G1S 4L8; serge.bourgault.1{at}ulaval.ca

Abstract

Background Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene.

Aim To report the ocular features and characterise the retinal phenotype in molecularly confirmed APS1.

Method This retrospective case series reviewed five molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months–44 years; mean follow-up of 8 years). The medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG) and antiretinal antibody results were reviewed.

Results All but one case had decreased vision at first presentation. All cases had peripheral pigmentary retinal changes; macular atrophy was noted in 80% of cases. The most common feature on spectral-domain optical coherence tomography was a disruption of the external limiting membrane and inner segment ellipsoid band (n=3). Fundus autofluorescence imaging demonstrated a parafoveal ring of hyper-autofluorescence (n=1) or a stippled and patchy autofluorescence pattern in the macula (n=1). The visual fields were constricted in all tested patients (n=3). The rod ERG was abnormal in all cases; the relative involvement of rods and cones differed. Four patients who were tested for antiretinal antibodies were found positive by immunohistochemistry (n=3) and/or western blot (n=2).

Conclusions Photoreceptor degeneration is part of APS1 phenotype and the presence of antiretinal antibodies strongly supports an aetiology similar to that of non-paraneoplastic autoimmune retinopathy. Periodic retinal evaluation and imaging, visual field testing and ERG would assist in monitoring the retinopathy in APS1-related disease.

  • Retina
  • Genetics
  • Degeneration
  • Child health (paediatrics)

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