Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
BACKGROUND
Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene.


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


METHODS
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.
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.
Serge
S
Bourgault
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.
Catherine
C
Baril
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.
Ajoy
A
Vincent
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.
Elise
E
Héon
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.
Asim
A
Ali
Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.
Ian
I
MacDonald
Departments of Ophthalmology and Visual Sciences and Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
Gregg T
GT
Lueder
Department of Ophthalmology, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada Saskatoon Retina Consultants, Saskatoon, Saskatchewan, Canada.
Kevin M
KM
Colleaux
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.
Isabelle
I
Laliberté
D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012160:Retina / Q000276:immunology / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014157:Transcription Factors / Q000235:genetics; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D000096927:AIRE Protein
D001323:Autoantibodies; D014157:Transcription Factors; D000096927:AIRE Protein
Child health (paediatrics); Degeneration; Genetics; Retina