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Background: Large scale observational studies are crucial to study thyroid cancer incidence and management, known to vary in time and place. Combining cancer registry data with other data sources enables execution of population-based studies, provided data sources are accurate. The objective was to compare thyroid tumour and treatment information between the available data sources in Belgium., Methods: We performed a retrospective national population-based cohort study. All patients with thyroid cancer diagnosis in Belgium between 2009 and 2011 (N = 2659 patients) were retrieved from the Belgian Cancer Registry database, containing standard patient and tumour characteristics. Additionally, information was obtained from the following sources: a) detailed pathology reports b) the health insurance company database for reimbursed performed therapeutic acts (both available for N = 2400 patients) c) registration forms for performed and/or planned treatments at the time of the multidisciplinary team meeting (available for N = 1819 patients). More precisely, information was retrieved regarding characteristics of the tumour (histologic subtype, tumour size, lymph node status (source a)) and the treatment (thyroid surgery (a,b,c), lymph node dissection (a,b), postoperative administration of radioactive iodine (b,c))., Results: High concordance in histological cancer subtype (> 90%), tumour size (96.2%) and lymph node involvement (89.2%) categories was found between the cancer registry database and the pathology reports. Tumour subcategories (such as microcarcinoma, tumor ≤1 cm diameter) were more specified in the pathology reports. The therapeutic act of thyroid surgery as mentioned in the pathology reports and health insurance company database was concordant in 92.7%, while reports from multidisciplinary team meetings showed 88.5% of concordance with pathology reports and 86.1% with health insurance data. With regard to postoperative radioiodine administration, reports from multidisciplinary teams and health insurance data were concordant in 76.8%., Conclusion: Combining registered and/or administrative data results in sufficiently accurate information to perform large scale observational studies on thyroid cancer in Belgium. However, thorough and continuous quality control and insight in strengths and limitations of each cancer data source is crucial., (© 2022. The Author(s).)

Anaplastic thyroid carcinoma (ATC) is the most lethal form of thyroid neoplasia and represents an end stage of thyroid tumor progression. No effective treatment exists so far. In this study, we analyzed the miRNA expression profiles of 11 ATC by microarrays and their relationship with the mRNA expression profiles of the same 11 ATC samples. ATC show distinct miRNA expression profiles compared to other less aggressive thyroid tumor types. ATC show 18 commonly deregulated miRNA compared to normal thyroid tissue (17 downregulated and 1 upregulated miRNA). First, the analysis of a combined approach of the mRNA gene expression and of the bioinformatically predicted mRNA targets of the deregulated miRNA suggested a role for these regulations in the epithelial to mesenchymal transition (EMT) process in ATC. Second, the direct interaction between one of the upregulated mRNA target, the LOX gene which is an EMT key player, and a downregulated miRNA, the miR-29a, was experimentally validated by a luciferase assay in HEK cell. Third, we confirmed that the ATC tissue is composed of about 50% of tumor associated macrophages (TAM) and suggested, by taking into account our data and published data, their most likely direct or paracrine intercommunication between them and the thyroid tumor cells, amplifying the tumor aggressiveness. Finally, we demonstrated by in situ hybridization a specific thyrocyte localization of 3 of the deregulated miRNA: let-7g, miR-29a and miR-30e and we pointed out the importance of identifying the cell type localization before drawing any conclusion on the physiopathological role of a given gene.

We report the case of an immunocompetent 78-year-old woman who developed cytomegalovirus (CMV) retinitis after a single intravitreous injection of triamcinolone acetonide (IVTA). Review of medical records. The patient with macular edema secondary to branch retinal vein occlusion developed peripheral retinitis with hemorrhagic and inflammatory vascular sheathing 3 months after IVTA. A presumptive diagnosis of viral retinitis was confirmed by polymerase chain reaction (PCR) of the aqueous humor tap. The PCR test was positive for CMV DNA. The patient slowly responded to intravenous ganciclovir and oral valganciclovir. After therapeutic vitrectomy for intercurrent vitreous hemorrhage, and while still under treatment, the retinitis resolved completely with final visual acuity of 20/25. CMV retinitis can occur after local immunosuppression with IVTA in an immunocompetent patient with no other systemic risk factors.

We describe a case of an acute symptomatic and non-progressive visual field constriction in one eye of a 19-year-old female with optic disc drusen. The fellow eye showed slowly progressive visual field defects. A limited or retrolaminar infarction of the optic nerve head seems a plausible cause of the acute visual field loss. The slow progression in the fellow eye is most probably due to mechanical compression by the drusen. The case is documented with Humphrey perimetry during a follow-up of 11 years and with Color Doppler Imaging (CDI) of the optic nerve.

Purpose: To report a new family with Blau syndrome caused by CARD15/NOD2 mutation., Design: Observational case series., Methods: Detailed clinical evaluation in three affected relatives with Blau syndrome. Haplotype and mutation analysis of the CARD15/NOD2 gene were performed., Results: Ocular manifestations identified in the proband include bilateral band keratopathy, cataract, iritis, vitritis and severe granulomatous choroidopathy. The mother and one brother of the proband exhibit the same characteristic organ involvements of this disease. Haplotype analysis from the pericentromeric region on chromosome 16 identified a common haplotype in all affected relatives that is absent in unaffected relatives. Sequencing analysis revealed a heterozygous pathogenic mutation in the CARD15/NOD2 gene, the previously reported p.R334W substitution., Conclusion: Blau syndrome is a rare autosomal-dominant disease that can lead to severe visual impairment. The search of a CARD15/NOD2 mutation could be helpful in the differential diagnosis of childhood uveitis.

Purpose: To report the clinical and imaging features in four male patients presenting with Susac syndrome, a microangiopathy affecting the brain, the retina, and the cochlea., Methods: Retrospective review of clinical data, fluorescein angiograms, and magnetic resonance imaging findings in these four cases., Results: All four patients were young men (range, 20-35 years). The axiomatic triad of ocular, cochlear, and neurologic involvement was present in three patients. Neurologic symptoms were absent in the fourth one. Fluorescein angiography showed arteriolar wall hyperfluorescence in all four patients. Magnetic resonance images showed in three patients multifocal hyperintense lesions in the white matter and the corpus callosum with typical involvement of the central fibers. Therapeutic modalities and clinical course are described. Three patients had a follow-up of 3, 5, and 13 years with complete remission of the disease within 1 year in all three cases. One patient had severe neuropsychological sequelae., Conclusion: Susac syndrome seems to be less unusual in men than previously reported. Though presenting as a self-limited monophasic course disease in most cases, it may result in severe neuropsychological sequelae. Early diagnosis of the syndrome is enabled by the combination of the ophthalmologic, audiometric, and brain magnetic resonance features.

Purpose: To evaluate the safety and efficacy of photodynamic therapy with verteporfin (PDT) for subfoveal classic choroidal neovascularization (CNV) related to punctate inner choroidopathy (PIC) or presumed ocular histoplasmosis-like syndrome (POHS-like)., Methods: Retrospective review of 16 eyes from 14 patients with subfoveal classic CNV associated with PIC or POHS-like and treated with PDT., Results: The mean visual acuity increased from 4.5/10 (range: 1/10-9/10) to 7/10 (range: 2/10-10/10) after a mean follow-up of 21 months (range: 8-32 months) and a mean number of 2 PDT (range: 1-6). Visual acuity remained stable or improved in 13 of the 16 eyes (81%) and decreased in three., Conclusion: This nearly two-year follow-up study suggests that PDT could be helpful for patients with subfoveal classic CNV related to PIC or POHS-like.

Purpose: To evaluate the effect of photodynamic therapy on subfoveal neovascular membrane related to type 2A idiopathic juxtafoveolar retinal telangiectasia., Design: Interventional case series., Methods: Retrospective review of four eyes of four patients who underwent photodynamic therapy for subfoveal neovascular membrane secondary to idiopathic juxtafoveolar retinal telangiectasia. Ocular photodynamic therapy with verteporfin was performed in all cases using standard protocols. Results are given in terms of final visual acuity and neovascular membrane activity based on clinical examination, fluorescein and indocyanin green angiography, and, in two cases, optical coherence tomography., Results: Baseline visual acuity of 20/30 and 20/40 (x2) was maintained in three patients after one, two, and three sessions of photodynamic therapy respectively, and a follow-up of 23, 21, and 9 months. Leakage specific to the subfoveal neovascular membrane ceased on the fluorescein angiography. In the other patient, the final vision decreased from 20/50 to 20/200 after four sessions of photodynamic therapy and a follow-up of 14 months. Although there was still mild persistent leakage on the fluorescein angiography, neovascular membrane size was unchanged, and no subretinal fluid was demonstrated on optical coherence tomography., Conclusions: Data from this case series suggest that photodynamic therapy may be effective in managing subfoveal neovascular membrane associated with idiopathic juxtafoveolar retinal telangiectasia, which usually carries a poor visual prognosis. Prospective study is required to confirm the beneficial effect of this treatment.

Multifocal choroiditis (MC) is an idiopathic choroidal inflammatory disease affecting young subjects. Secondary choroidal--and often central--neovascularisation is a frequent complication leading to a poor visual prognosis. Photodynamic therapy (PDT) has now proven to be successful to treat classic subfoveal choroidal neovascularisation in age-related macular degeneration and in pathologic myopia. We describe the treatment applied to classic choroidal neovascularisation in two young women with MC, two eyes with subfoveal neovascular membrane and one eye in which new vessels encroach the foveal avascular zone. PDT has been useful in the three reported eyes, with stable or improved visual acuity. In two of them, it even made the membrane retract and become extrafoveal, allowing a secondary treatment using conventional laser.

Purpose: To describe and evaluate the cause of a clinical entity characterized by bilateral intraocular inflammation, multiple arterial ectasias including beading, macroaneurysms, comma-like ectasias and kinking, with vasculitis, staining of the optic disk and multiple peripheral round punched-out hypopigmented chorioretinal scars in elderly patients. The formation and the course of the arterial ectasias is analyzed., Methods: Seven patients with this syndrome were evaluated by clinical examination, fluorescein angiography, and systemic investigations., Results: Three of the seven patients had a biopsy characteristic of sarcoidosis, two others showed positive bronchoalveolar lavage, as well as other analyses and tests suggesting sarcoidosis, and two showed other findings suggestive of sarcoidosis. The patients were all over 60 years of age and had arterial hypertension. In two patients, an arterial ectasia developed at the site of previous focal inflammation. The macroaneurysms either remained unchanged, became comma-like ectasias, arterial kinks, or completely vanished., Conclusion: Elderly patients with multiple arterial ectasias, uveitis, disk staining, and peripheral chorioretinitis should be thoroughly investigated for sarcoidosis. We suggest that sarcoidosis may cause some degree of arteritis, which may weaken the arterial wall, with resulting ectasia. Arterial hypertension may play a role in the formation of the ectasias by increasing the pressure on the arterial wall weakened by inflammation.

We report on four patients, from three different families, with Senior-Loken syndrome (SLS). They were unusual in that they reached end-stage renal failure (ESRF) only during the fifth or sixth decade. SLS is an autosomal-recessive disorder defined by the association of nephronophthisis and retinal dystrophy. Affected individuals invariably progress to ESRF, usually before the age of 20 years. The diagnosis was based on typical clinical presentation and characteristic renal histology, that is, a picture of chronic interstitial nephritis with pronounced thickening and multilayering of tubular basement membranes. Deterioration of renal function was slow, leading to ESRF between the ages of 42 and 56 years. Retinal dystrophy, already symptomatic during childhood in two patients, led to severe visual impairment in all. In contrast with four cases of SLS recently reported in very young patients, the NPH1 gene (the main gene responsible for nephronophthisis) was not deleted in our two tested patients. We conclude that SLS should be considered in adults who suffer from both chronic interstitial nephropathy and retinal degeneration. Whether the SLS is a variant of nephronophthisis and whether early- and late-onset renal failure in SLS is accounted for by genetic or allelic heterogeneity remain to be determined.

Purpose: To study the prevalence of polypoidal choroidal vasculopathy (PCV) in Caucasian patients with occult choroidal neovascularization (CNV); to study the clinical spectrum of PCV in Caucasians and the outcome after laser photocoagulation of such lesions., Methods: (1) A consecutive series of 374 eyes of Caucasian patients at least 58 years old, presenting occult CNV, presumed to have age-related macular degeneration (AMD) on fluorescein angiography (FA) were further characterized by indocyanine green angiography (ICGA) to determine the frequency of PCV. (2) The funduscopic, FA and ICGA findings in a cohort of 36 Caucasian patients with PCV were analyzed. (3) The outcome after laser photocoagulation was studied in 14 PCV eyes with a minimum follow-up of 6 months., Results: (1) Fourteen of 374 eyes (4%) presenting occult CNV in patients at least 58 years old were diagnosed as PCV by means of ICG-A. (2) A polypoidal lesion was found in the macula in 22 of 45 PCV eyes, in the peripapillary area in 16 of 45, under the temporal vascular arcade in 6 of 45 and in the midperiphery in 6 of 45. Large or soft drusen were observed in 15 of 45 eyes with PCV. (3) Regression of fundus signs without persisting polyps 6 months after laser photocoagulation was obtained in 5 of 5 treated peripapillary lesions but in only 5 of 9 treated macular or arcade lesions., Conclusion: Polypoidal choroidal vasculopathy is not rare in Caucasian patients presenting with occult choroidal neovascularization. The fundus abnormalities seen in such eyes overlap with the typical manifestations of AMD. Whereas the prognosis after photocoagulation of peripapillary polypoidal lesions appears to be relatively good, it is more guarded for macular or arcade lesions.

A high-grade diffuse T cell lymphoma, initially simulating bilateral panuveitis, was diagnosed by analysis of a vitreous biopsy specimen and a breast tumor in a 57-year-old woman. It responded favorably to aggressive chemotherapy before it relapsed in leukemic transformation. This case emphasizes the misleading initial symptoms of primary intraocular lymphoma and the role of immunophenotyping in the diagnosis and classification of lymphoproliferative ocular disorders. The presentation and management of uveal lymphoid neoplasia are discussed.

Ocular defects associated with Alport syndrome (AS) include anterior lenticonus and retinal flecks. We report on recurrent corneal erosion (RCE) as another ocular manifestation of the disease. Three brothers with AS reported a history of spontaneous attacks of RCE (2 episodes over 1 to 3 years in 2 of them and about 60 episodes in one brother over the last 10 years) characterized by acute ocular pain, lacrimation and photophobia lasting two to five days. The absence of RCE in the two other non-affected brothers from the same kindred suggested an association between AS and RCE, and prompted us to assess its prevalence. Forty-one patients with AS and renal failure and 67 control transplanted patients (with another original nephropathy) were evaluated. Seven AS patients had a history of RCE (first manifested between the ages of 12 and 21) versus only one control patient (P = 0.003). In conclusion, a history of RCE is found in about 20% of patients with AS and renal failure. RCE is likely to result from an inherent structural weakness of the corneal epithelial basement membrane (containing type IV collagen). A history of RCE should be sought when evaluating a patient for AS. Ophthalmologists should also be aware of this association, when confronted with a patient suffering from non-traumatic RCE.

Aims/background: This study was undertaken to confirm the association between diffuse retinal pigment epitheliopathy (DRPE) and systemic corticosteroid therapy. This finding can be of help in determining an aetiological factor in DRPE and associated diseases. Corticosteroids may contribute to the development of leakage in the presence of a retinal pigment epitheliopathy or central serous chorioretinopathy., Methods: Cases of DRPE were collected from the files of members of the European Fluorescein Angiography Club. There were 34 who developed their ophthalmic symptoms while being treated with corticosteroids., Results: DRPE developed in 34 patients from 10 European eye clinics during systemic treatment with corticosteroids. Thirteen patients were treated with corticosteroids after allotransplantation, 21 other patients developed ocular symptoms while treated with steroids for serious systemic disorders. Symptoms occurred in some patients when the daily corticosteroid dosage was elevated, and the visual complaints ameliorated or even disappeared sometimes on discontinuation of the corticosteroid therapy., Conclusion: Corticosteroids can damage the retinal pigment epithelial barrier and predispose a patient to serous retinal detachment, whereas psychological stress may play a role in the development of central serous chorioretinopathy. A decrease of the daily corticosteroid dosage may help to diminish the visual symptoms.

We report a case of bilateral optic neuropathy associated with the CREST syndrome, a variant of scleroderma. Immunosuppressive therapy achieved significant improvement of the visual symptoms for two years. The pathophysiological mechanisms underlying this unique association remain unclear.

Specific fundus changes have been reported in patients with membranoproliferative glomerulonephritis type II (MPGN type II). We studied the clinical course of this retinopathy in four patients who all had a long follow-up with several fundus examinations. Sequential observation was indicative of a slow progression of the retinopathy. Most eyes maintained in the chronic stages a nearly normal visual acuity, and a full visual field despite the existence of marked drusen and atrophic changes. The prognosis however must be somewhat guarded, since choroidal neovascularization developed in three eyes and caused bilateral severe visual loss in one patient.

A total of 23 patients aged between 11 and 64 years who had biopsy-proven membranoproliferative glomerulonephritis type II (dense deposit disease) were studied using fluorescein angiography of the retina. With the exception of two adolescents, all patients exhibited small subretinal nodules that were similar to basal laminar drusen. Subjects with a long history of renal disease displayed more numerous and larger nodules as well as atrophic changes. Four subjects presented with subretinal neovascular membranes.

A Purtscher-like retinopathy occurred in a 41-year-old woman who underwent the excision of a pterygium after a retrobulbar injection of 3 ml of lidocaine HCl. Visual acuity increased from 20/200 on the first postoperative day to 20/25, 12 weeks later. The exudates and the hemorrhages progressively disappeared. However, a relative, localized, paracentral scotoma and an afferent pupil defect still persist. The pathophysiology of this Purtscher-like retinopathy is discussed.

Three patients with systemic lupus erythematosus (SLE) associated with anti-phospholipid antibodies are reported. All three had severe vaso-occlusive disease: the first had an unilateral vaso-occlusive retinopathy, the second an unilateral central retinal venous obstruction, and the third a bilateral ischemic choroidopathy. The association of these occlusive ocular vascular diseases with the presence of the lupus anticoagulant and other associated factors in SLE is discussed.