Serge Bourgault1, Catherine Baril1, Ajoy Vincent2, Elise Héon2, Asim Ali2, Ian MacDonald3, Gregg T Lueder4, Kevin M Colleaux5, Isabelle Laliberté6. 1. Département d'ophtalmologie et ORL-Chirurgie cervico-faciale, Faculté de médecine, Université Laval, Québec, Quebec, Canada Centre universitaire d'ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec, Québec, Quebec, Canada. 2. Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada. 3. Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada. 4. Departments of Ophthalmology and Visual Sciences and Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA. 5. Department of Ophthalmology, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada Saskatoon Retina Consultants, Saskatoon, Saskatchewan, Canada. 6. Département d'ophtalmologie et ORL-Chirurgie cervico-faciale, Faculté de médecine, Université Laval, Québec, Quebec, Canada Centre mére-enfant Soleil, CHUL, CHU de Québec, Québec, Quebec, Canada.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Entities:
Keywords:
Child health (paediatrics); Degeneration; Genetics; Retina
Authors: Jacob S Heng; Sean F Hackett; Genevieve L Stein-O'Brien; Briana L Winer; John Williams; Loyal A Goff; Jeremy Nathans Journal: Proc Natl Acad Sci U S A Date: 2019-12-16 Impact factor: 11.205
Authors: Catherine J Culp; Christian M Pappas; Marc Toso; Phillip Qu; Nick Mamalis; Gregory S Hageman Journal: Am J Ophthalmol Case Rep Date: 2022-01-20