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.
Subject(s)
Polyendocrinopathies, Autoimmune/complications , Retinal Degeneration/etiology , Adolescent , Adult , Autoantibodies/blood , Blotting, Western , Child , Child, Preschool , Electroretinography , Female , Fluorescent Antibody Technique, Indirect , Follow-Up Studies , Humans , Infant , Male , Middle Aged , Mutation , Phenotype , Polyendocrinopathies, Autoimmune/diagnosis , Polyendocrinopathies, Autoimmune/genetics , Retina/immunology , Retina/physiopathology , Retinal Degeneration/diagnosis , Retinal Degeneration/physiopathology , Retrospective Studies , Tomography, Optical Coherence , Transcription Factors/genetics , Visual Field Tests , Visual Fields/physiology , AIRE ProteinSubject(s)
Angiogenesis Inhibitors/adverse effects , Antibodies, Monoclonal/adverse effects , Hemangioma, Capillary/drug therapy , Retinal Neoplasms/drug therapy , Retinal Neovascularization/chemically induced , von Hippel-Lindau Disease/complications , Adolescent , Antibodies, Monoclonal, Humanized , Bevacizumab , Female , Fluorescein Angiography , Hemangioma, Capillary/etiology , Humans , Injections , Retinal Neoplasms/etiology , Retinal Neovascularization/diagnosis , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Visual Acuity , Vitreous BodyABSTRACT
BACKGROUND: Our objectives were to present the spectrum of eye injuries caused by indoor soccer, as seen at our institution, and to initiate discussion as to whether eye protection should become mandatory for this indoor sport. METHODS: Chart review of patients presenting to our institution with eye injuries from indoor soccer. RESULTS: Five cases were identified from 2001-2005, all occurring during the winter or late fall. Each injury was due to contact with the soccer ball itself. Initially, all 5 patients presented with commotio retinae (1 with a prominent retinal and vitreous hemorrhage and 2 with smaller retinal hemorrhages), 2 with hyphema and traumatic mydriasis, 1 with subconjunctival hemorrhage, and 1 with upper lid edema and ecchymosis. Three resolved uneventfully with 20/20 or better vision; however, in 2 there were findings of choroidal rupture with chorioretinal scarring. One of these had 20/20 vision and a discontinuous choroidal rupture peripherally, and the other had 20/40 vision and extensive chorioretinal scarring. One patient also showed a peculiar persistent iris scar. INTERPRETATION: Soccer-related eye injuries have been recognized as an important ophthalmologic problem in Europe and now increasingly so in North America. With the increasing popularity of indoor soccer in Canada, serious eye injuries have become more prevalent. On the basis of the prevalence and the nature and mechanism of the ocular trauma, we believe there may be a need to make eye protection mandatory for all forms of soccer.
Subject(s)
Eye Injuries/etiology , Eye Injuries/prevention & control , Eye Protective Devices , Soccer/injuries , Adolescent , Adult , Canada , Child , Choroid/injuries , Eye Injuries/diagnosis , Female , Humans , Hyphema/diagnosis , Hyphema/etiology , Hyphema/prevention & control , Legislation, Medical , Male , Retinal Hemorrhage/diagnosis , Retinal Hemorrhage/etiology , Retinal Hemorrhage/prevention & control , Rupture , Visual Acuity , Vitreous Hemorrhage/diagnosis , Vitreous Hemorrhage/etiology , Vitreous Hemorrhage/prevention & controlABSTRACT
CASE REPORT: We report maculopathy occurring in a patient after 18 months of weekly mefloquine for malaria prophylaxis. Macular retinal pigment epithelium changes bilaterally were visually insignificant, with the patient demonstrating 20/20 corrected visual acuity bilaterally. COMMENTS: Retinal change as an adverse effect of mefloquine has not previously been reported.
Subject(s)
Antimalarials/adverse effects , Malaria/prevention & control , Mefloquine/adverse effects , Pigment Epithelium of Eye/drug effects , Retinal Diseases/chemically induced , Adult , Fluorescein Angiography , Humans , Male , Visual AcuityABSTRACT
CASE REPORT: The clinical course of 2 Canadian cases of West Nile chorioretinitis is described. The patients developed visual-field disturbances shortly after flu-like illnesses and were referred for retinal evaluation. Full ophthalmologic examination included Snellen visual acuity testing, applanation tonometry, slit-lamp examination, dilated fundus examination, fundus photography, and fluorescein angiography. Both patients developed self-limited cases of chorioretinitis exhibiting characteristic fundus and fluorescein angiographic findings. COMMENTS: Since the introduction of West Nile virus to Canada and its progressive spread across the country, more patients will present to their eye specialists with chorioretinitis. In cases of chorioretinal inflammation, West Nile virus infection should be included in the differential diagnosis.
