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Purpose : To analyze the pattern of childhood uveitis in a referral center in Tunisia, North Africa. Methods :The study included 64 patients with uveitis examined at the Department of Ophthalmology of Monastir (Tunisia) from January 1994 to July 2005. All patients had a comprehensive ocular and systemic history, including an extensive review of medical systems. Complete ophthalmic examination was performed in all cases, including best-corrected Snellen visual acuity, slit-lamp examination, applanation tonometry, and dilated fundus examination with 3-mirror lens. Standard diagnostic criteria were employed for all syndromes or entities of uveitis. Results : The mean age at onset of uveitis was 12.4 years. The male-to-female ratio was 0.68. The process was unilateral in 51.6% of patients. Mean follow-up was 43.2 months. Anterior and intermediate uveitis each represented 31.25% of cases, posterior uveitis 20.3%, and panuveitis 17.2%. Noninfectious uveitis (75%) was the most frequent type of inflammation. Idiopathic uveitis was found in 50% of patients. Infectious uveitis was responsible for 25% of the cases, with toxoplasmosis (14.1%) being the most frequent cause. Twenty percent of the patients had systemic associations; juvenile idiopathic arthritis was found in 6.25%. Ocular complications occurred in 74.7% of affected eyes, of which the most common were posterior synechiae (28.4%), cataract (17.9%), cystoid macular edema (19%), and optic disc edema (32.6%). Fifty-seven affected eyes (60%) had a final visual acuity more than 20/40 and nine (9.5%) had a final visual acuity less than 20/200. Conclusions : In a hospital population in Tunisia, a specific cause of uveitis in children was found in half the patients. Idiopathic intermediate uveitis was the leading cause of uveitis in our study, followed by idiopathic anterior uveitis and toxoplasmosis. Uveitis associated with juvenile idiopathic arthritis was rare. Visual prognosis appeared to be good. [ABSTRACT FROM AUTHOR]

To compare clinical profile and visual outcomes of occlusive versus non-occlusive retinal vasculitis (RV). A retrospective comparative study 284 patients were enrolled, including 124 patients with occlusive RV (ORV) and 160 patients with non-occlusive RV (NORV). Patients with ORV were older (p ≤ 10–3), predominantly male (p ≤10-3), with less bilateral involvement (31.5% vs 53,4%; p ≤ 10−3). Infectious RV was more frequently diagnosed in the ORV group than in the NORV group (48.8% vs 32.9%, p =.006). Behçet disease and ocular tuberculosis were the leading causes of ORV. Idiopathic RV, Behçet disease, and sarcoidosis were the most common causes of NORV. Independent predictive factors of poor visual outcome were worse baseline visual acuity in both groups (p =.006 and p ≤ 10–3, respectively), and retinal hemorrhages (p =.048) and optic atrophy (p =.040) in the ORV group. Occlusive and non-occlusive RV have distinctive clinical and etiological profile. [ABSTRACT FROM AUTHOR]

Aims/Purpose: To describe the pattern of acute retinal necrosis (ARN) in a referral centre in Tunisia, North Africa. Methods: The charts of 22 patients diagnosed with ARN from January 2006 to January 2023 were retrospectively reviewed. Results: The mean age at presentation was 39.2 (range, 12–70) years, sex ratio was 1.75. The mean diagnostic delay was 17.9 days (range 1–60). The mean visual acuity at presentation was 20/400. All patients presented with a mild to moderate anterior uveitis (100%) with granulomatous keratic precipitates in 18 eyes (81%) and ocular hypertension in 4 eyes (18%). Necrotizing retinitis involved >50% of the retina in 36.5%of eyes. Polymerase chain reaction on aqueous humour sample identified varicella zoster virus in 10 eyes (45%), herpes simplex virus‐1 in 4 eyes (18%) and was negative in 8 eyes (22%). All patients received intravenous acyclovir, followed by oral antivirals. Intravitreal injections of ganciclovir were administered in 12 eyes (54.5%). Follow‐up ranged from 1 month to 48 months. The mean final visual acuity was 20/200. Complications included retinal detachment (RD) (31.8%), macular oedema (18%), macular atrophy (22%), epimacular membrane (22%), cataract (27%), optic nerve atrophy (18%) and central retinal artery occlusion (4%). No patient developed bilateral ARN. Prophylactic laser was performed in 7 eyes (32%). RD was treated with pars plana vitrectomy and silicone oil injection in 7 eyes. Conclusions: ARN syndrome in Tunisia is most commonly caused by VZV. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the changes over time in extraocular and ocular manifestations of Behçet's disease (BD) in Tunisian patients. Material and methods: Retrospective study of 246 patients divided into two groups: group 1 (147 patients examined from 1995 to 2005) and group 2 (99 patients examined from 2006 to 2017). Results: Active or scarred genital ulcers observed by physician at presentation were significantly less frequent in group 2 (47.2% vs. 29.6%; p = 0.007), as were articular involvement (50.3% vs. 34.7%; p = 0.016) and erythema nodosum (18.4% vs. 8.1%; p = 0.024). One hundred-seven patients (43.5%) developed ocular manifestations during the 23-year study period. Intermediate uveitis was significantly more frequent in group 2 than in group 1 (11.7% vs. 28.4%; p = 0.003), and posterior uveitis less frequent in group 2 than in group 1 (34.2% vs. 19.7%; p = 0.016). Patients from group 2 were more likely to have macular edema (19.8% vs. 45.6%; p = 0.001). However, better visual prognosis, with a lower rate of legal blindness, was noted in group 2. Conclusions: Changes over time included a decrease in the rate of articular involvement and cutaneous involvement. There was an increase in the rate of intermediate uveitis and a decrease in the rate of posterior uveitis over time. Despite an increase in the rate of macular edema, there was an improvement in visual prognosis, with less legal blindness over time. [ABSTRACT FROM AUTHOR]

Purpose: To describe the demographics and clinical characteristics of anterior scleritis associated with uveitis in a referral center in Tunisia. Methods: The charts of twenty patients (20 eyes) diagnosed with sclero‐uveitis at Fattouma Bourguiba University Hospital, Monastir, Tunisia, presented between January 2015 and April 2022, were retrospectively reviewed. Detailed ophthalmic examination and fundus photography were performed in all patients. Mean follow‐up period was 28.4 months. Patients with keratitis or posterior scleritis were excluded. Results: There were eight women and 12 males patients with a mean age of 34.8 years. All patients presented with ocular pain. Mean initial best‐corrected visual acuity (BCVA) was 20/80 (range, 20/2000–20/25).There was an associated anterior uveitis in 80% of cases and panuveitis in 20%. Clinical findings at presentation included nodular scleritis in five eyes (25%) and scleromalacia perforans in four eyes (20%). Idiopathic sclero‐uveitis accounted for almost 55%. Identified causes of sclerouveitis included rheumatoid arthritis in four eyes (20%), tuberculosis in three eyes (15%), granulomatosis with polyangiitis in two eyes (10%), sarcoidosis in one eye (5%) and then one case after mRNA 1273 vaccine (5%). Ocular complications included pupillary seclusion in 25% of cases and vision loss in 10% of patients. Mean final BCVA was 20/100 (range, 20/4000–20/32). Treatment modalities of non‐infectious scleritis included indomethacine in 14 patients (82.3%), systemic corticosteroid in seven patients (41.1%) and immunosuppressant or biological agent in five patients (29.4%). Conclusions: Our results provide useful information about the patterns and etiologies of sclerouveitis. The leading causes of sclerouveitis include mainly rheumatoid arthritis and tuberculosis. An infectious cause should be always ruled out. [ABSTRACT FROM AUTHOR]

Purpose: To compare clinical profile and visual outcomes of occlusive versus non‐occlusive retinal vasculitis (RV). Methods: A retrospective comparative study. Results: 284 patients were enrolled, including 124 patients with occlusive RV (ORV) and 160 patients with nonocclusive RV (NORV). Patients with ORV were older (p ≤ 10‐3), predominantly male (p ≤ 10‐3), with less bilateral involvement (31.5% vs. 53.4%; p ≤ 10‐3). Infectious RV was more frequently diagnosed in the ORV group than in the NORV group (48.8% vs. 32.9%, p = 0.006). Behçet disease and ocular tuberculosis were the leading causes of ORV. Idiopathic RV, Behçet disease, and sarcoidosis were the most common causes of NORV. Independent predictive factors of poor visual outcome were worse baseline visual acuity in both groups (p = 0.006 and p ≤ 10‐3, respectively), and retinal haemorrhages (p = 0.048) and optic atrophy (p = 0.040) in the ORV group. Conclusions: Occlusive and non‐occlusive RV have distinctive clinical and etiological profile. References 1. Agarwal A, Karkhur S, Aggarwal K, Invernizzi A, Singh R, Dogra MR, et al. Epidemiology and clinical features of inflammatory retinal vascular occlusions: pooled data from two tertiary‐referral institutions: Inflammatory retinal vascular occlusion. Clin Experiment Ophthalmol. janv 2018;46(1):62–74. 2. Mir TA, Reddy AK, Burkholder BM, Walsh J, Shifera AS, Khan IR, et al. Clinical Features and Incidence Rates of Ocular Complications in Patients With Retinal Vasculitis. Am J Ophthalmol. juill 2017;179:171–8. [ABSTRACT FROM AUTHOR]

Purpose: To describe the pattern of acute retinal necrosis (ARN) syndrome in a referral center in Tunisia.Methods: Retrospective review of the charts of 12 patients (12 eyes).Results: Necrotizing retinitis involved >50% of the retina in 33.3% of eyes. Polymerase chain reaction on aqueous humor sample identified herpes simplex virus-1 in 4 eyes (33.3%) and varicella zoster virus in 3 eyes (25%), and was negative in 5 eyes (41.7%). All patients received intravenous acyclovir, followed by oral antivirals. Follow-up ranged from 6 to 16 months. Retinal detachment (RD) occurred in 3 eyes (25%), but no patient developed bilateral ARN. Final visual acuity was 20/200 or worse in 7 eyes (58.3%). Delay in diagnosis (p = 0.015), macular involvement (p = 0.045), development of RD (p = 0.018), and 25-50% of retinal involvement (p = 0.045) were associated with a worse visual outcome.Conclusion: ARN carries poor visual prognosis in Tunisia. [ABSTRACT FROM AUTHOR]

Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis is therefore required. This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. Genomic DNA was extracted and the coding regions of CYP1B1 were analysed by direct sequencing. A phylogenetic network of CYP1B1 haplotypes was drawn using the median-joining algorithm. Sequence analysis revealed a 'tetra-allelic mutation' (two novel mutations, p.F231I and p.P437A in the homozygous state) in one patient. The healthy members of his family carried those variations on the same allele. Two previously described mutations p.G61E and c.535delG were also identified in the homozygous state in seven and two probands, respectively. Seven single-nucleotide polymorphisms were identified and used to generate haplotypes. Our results showed that the CYP1B1 mutations were present in 55% of Tunisian PCG patients' alleles. Haplotype analysis allowed us to define the proto-haplotype and to confirm historical migratory flows. Establishment of PCG genetic aetiology in Tunisia will improve genetic diagnosis and counselling. [ABSTRACT FROM AUTHOR]

Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in high hyperopia and retinal folding. It is an uncommon subtype of microphthalmia that has been mostly reported to coexist with several other ophthalmic conditions and to occur in sporadic cases. The membrane-type frizzled-related protein ( MFRP) is the only gene so far reported implicated in autosomal recessive, non-syndromic and syndromic forms of PM. Here, we performed a clinical and genetic analysis using six consanguineous families ascertained from different regions of Tunisia and affected with non-syndromic PM that segregates as an autosomal recessive trait. To identify the disease-causing defect in these families, we first analysed MFRP gene, then some candidate genes ( CHX10, OPA1, MITF, SOX2, CRYBB1-3 and CRYBA4) and loci (MCOP1, NNO1 and NNO2) previously implicated in different forms of microphthalmia. After exclusion of these genes and loci, we performed a genome-wide scan using a high density single nucleotide polymorphism (SNP) array 50 K in a large consanguineous pedigree. SNP genotyping revealed eight homozygous candidate regions on chromosomes 1, 2, 3, 6, 15, 17 and 21. Linkage analysis with additional microsatellite markers only retained the 2q37.1 region with a maximum LOD score of 8.85 obtained for D2S2344 at θ = 0.00. Further investigations are compatible for linkage of four more families to this region with a refined critical interval of 2.35 Mb. The screening of five candidate genes SAG, PDE6D, CHRND, CHRNG and IRK13 did not reveal any disease-causing mutation. [ABSTRACT FROM AUTHOR]

The aim of this retrospective study is to assess the frequency of HLA-B27 and HLA-B51 in healthy subjects from the center of Tunisia and to investigate their usefulness in the diagnosis of ankylosing spondylitis (AS) and Behçet's disease (BD), respectively. Microlymphocytotoxicity test was used to perform serologic HLA typing in a group of 124 healthy volunteers and a group of 365 patients suffering from clinical manifestations of AS and/or BD. HLA-B27 was found in 3.2% of healthy subjects and in 42.9% of patients with AS ( P < 0.00006). HLA-B51 is, however, found in 16.1% of healthy subjects and in 30.0% of patients with BD ( P > 0.05). Unlike HLA-B51, which seems to be as frequent in Tunisian patients with BD as in healthy subjects, HLA-B27 is more frequent in patients with AS than in controls. This highlights the usefulness of HLA-B27, rather than that of HLA-B51, in the diagnosis of the respective diseases. [ABSTRACT FROM AUTHOR]