Heterozygous factor V Leiden mutation manifesting with combined central retinal vein occlusion, cilioretinal artery occlusion, branch retinal artery occlusion, and anterior ischaemic optic neuropathy: a case report.

BACKGROUND: Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation. CASE PRESENTATION: A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE. CONCLUSION: Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient's risk of recurrent, sight-threatening and life-threatening thrombotic events.

OPTICAL COHERENCE TOMOGRAPHY FEATURES OF CHOROIDAL NEOVASCULARIZATION AND THEIR CORRELATION WITH AGE, GENDER, AND UNDERLYING DISEASE.

PURPOSE: To investigate the influence of age, gender, and underlying disease on the optical coherence tomography (OCT) features of choroidal neovascularization (CNV) secondary to inflammation, myopia (mCNV), and age-related macular degeneration (AMD-CNV). METHODS: Demographic and clinical data of eyes with treatment-naive inflammatory CNV, mCNV, and Type 2 AMD-CNV were collected. Optical coherence tomography images were reviewed to determine the presence of pitchfork sign, pigment epithelial detachment, subretinal fluid (SRF), intraretinal cysts, subretinal hyperreflective material, atrophy, and outer retinal disruption graded 1 to 4. The influence of demographics and underlying etiology on OCT signs was investigated. RESULTS: One hundred and eighty-five eyes from 179 patients were enrolled. The mean [SD] age was 36 [±14.4], 62 [±18], and 77 [±8] for the inflammatory CNV, mCNV, and AMD-CNV, respectively (P < 0.001). Multiple linear regression showed that the presence of pitchfork sign was negatively associated with age (P < 0.0001), regardless of underlying disease. By contrast, the SRF, pigment epithelial detachment, intraretinal cysts, and the outer retinal disruption were all positively influenced by age, regardless of gender and underlying disease (all P < 0.01). Logistic regression showed that none of the OCT signs increased the likelihood for diagnosis of inflammatory CNV. By contrast, the absence of SRF was suggestive for mCNVs, and the presence of pigment epithelial detachment and SRF was suggestive for AMD-CNVs. CONCLUSION: The age of the patient had a significant effect on the OCT appearance of the CNV, particularly the presence of a pitchfork sign, regardless of the underlying etiology. The absence of SRF was suggestive for a diagnosis of mCNVs. The presence of SRF and pigment epithelial detachment was suggestive for AMD-CNVs.

Swept-source OCT findings in shaken baby syndrome: case report.

BACKGROUND: Our purpose was to document the swept source optical coherence tomography (SSOCT) findings in a patient with Shaken baby syndrome (SBS). CASE PRESENTATION: SSOCT was obtained without sedation in a six-month-old girl with bilateral multilayered retinal hemorrhages due to SBS. It documented vitreoretinal interface abnormalities, including internal limiting membrane (ILM) detachment with retinal traction, in association with other specific changes in the inner and outer retinal layers. Six weeks later, retinal hemorrhages had substantially resolved, and there was optic disc pallor. OCT showed ILM reattachment with release of retinal traction and the development of severe diffuse retinal atrophy involving the fovea. CONCLUSIONS: SS OCT can provide useful information in SBS, revealing a wide variety of vitreoretinal interface, inner, and outer retinal changes not detected by clinical examination. It also may have a prognostic value over follow-up.

Vogt-Koyanagi-Harada disease: recurrence rates after initial-onset disease differ according to treatment modality and geographic area.

Background/Purpose Vogt-Koyanagi-Harada (VKH) disease is a primary autoimmune stromal choroiditis producing a spill-over panuveitis. For initial-onset VKH disease, it is increasingly thought that corticosteroid therapy is not sufficient and additional non-steroidal immunosuppressive therapy is needed. At the 11th workshop on VKH, the disease was said to be well controlled with corticosteroids alone in Japanese patients. The aim of this study was to review the literature to determine whether different levels of severity exist in different geographical areas. METHODS: Literature was reviewed for studies on the evolution of initial-onset VKH disease, looking at treatment modalities and proportion of cases with chronic evolution and/or sunset-glow fundus (SGF). RESULTS: PubMed search yielded 1249 references containing the term of Vogt-Koyanagi-Harada. Twenty references (15 from outside of Japan and 5 from Japan) contained information on the evolution of treated initial-onset disease. For the "international" group, percentage of chronic evolution after systemic corticosteroid monotherapy was 61%, and after combined steroidal and non-steroidal therapy it fell to 2% (0% in 3/4 studies). In the Japanese studies where all patients received systemic corticosteroids alone, chronic evolution was reported in 25%; however, SGF amounted to 61%. CONCLUSION: In the world at large, chronic evolution of initial-onset VKH disease treated with corticosteroids alone concerned two-thirds of patients. Japanese studies showed that chronic evolution was substantially less frequent, indicating possibly less severe disease in Japan. This proportion fell to almost zero when dual steroidal and non-steroidal immunosuppression was given at onset.

Changing pattern of clinical manifestations of Behçet's disease in Tunisia: comparison between two decades.

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.

Swept source-OCT and swept source-OCT angiography findings in posterior microphthalmos.

PURPOSE: To describe swept source-OCT (SS-OCT) and swept source-OCT angiography (SS-OCTA) findings in eyes with posterior microphthalmos (PM). METHODS: Twelve eyes (six patients) with PM were evaluated using SS-OCT and SS-OCTA. Structural changes, subfoveal choroidal thickness (SFCT), and perifoveal capillary changes with qualitative and quantitative assessments were analyzed. Twenty eyes served as control group. RESULTS: SS-OCT findings included elevated retinal papillo-macular fold (75%), retinal pigment epithelium folds (83%), macular cystoid spaces (42%), subretinal fluid (17%), and increased visibility of posterior vitreous cortex and hyaloid (42%). Mean SFCT in PM and in control eyes were 430.33 ± 157.48 µm and 290.05 ± 52.87 µm, respectively (p = 0.004). Perifoveal capillary changes on SS-OCTA included foveal avascular zone (FAZ) remodeling (100%), vessel tortuosity (67%), disorganization of the deep capillary network (67%), intraretinal cystoid spaces (42%), and areas of signal voids in the choriocapillaris (33%). FAZ area was significantly smaller in eyes with PM than in the control group in both the superficial (p < 0.001) and deep capillary plexuses (p = 0.001). Capillary vessel density (CVD) was significantly lower in the PM than in the control group in the deep capillary plexus (p = 0.004). Log MAR BCVA correlated negatively with axial length (r = - 0.929, p < 0.001), FAZ area in both the superficial (r = - 0.637, p < 0.001) and deep capillary plexus (r = - 0.561, p = 0002), and CVD in the deep capillary plexus (r = - 0.450, p = 0.016). CONCLUSIONS: Combined SS-OCT and SS-OCTA allow the detection of various retinal and choroidal structural and microvascular changes in eyes with PM. These findings can provide new insights onto this blinding ocular condition.

Retinal dysfunction parallels morphologic alterations and precede clinically detectable vascular alterations in Meriones shawi, a model of type 2 diabetes.

Diabetic retinopathy is a major cause of reduced visual acuity and acquired blindness. The aim of this work was to analyze functional and vascular changes in diabetic Meriones shawi (M.sh) an animal model of metabolic syndrome and type 2 diabetes. The animals were divided into four groups. Two groups were fed a high fat diet (HFD) for 3 and 7 months, two other groups served as age-matched controls. Retinal function was assessed using full field electroretinogram (Ff-ERG). Retinal thickness and vasculature were examined by optical coherence tomography, eye fundus and fluorescein angiography. Immunohistochemistry was used to examine key proteins of glutamate metabolism and synaptic transmission. Diabetic animals exhibited significantly delayed scotopic and photopic ERG responses and decreases in scotopic and photopic a- and b-wave amplitudes at both time points. Furthermore, a decrease of the amplitude of the flicker response and variable changes in the scotopic and photopic oscillatory potentials was reported. A significant decrease in retinal thickness was observed. No evident change in the visual streak area and no sign of vascular abnormality was present; however, some exudates in the periphery were visible in 7 months diabetic animals. Imunohistochemistry detected a decrease in the expression of glutamate synthetase, vesicular glutamate transporter 1 and synaptophysin proteins. Results indicate that a significant retinal dysfunction was present in the HFD induced diabetes involving both rod and cone pathways and this dysfunction correlate well with the morphological abnormalities reported previously. Furthermore, neurodegeneration and abnormalities in retinal function occur before vascular alterations would be detectable in diabetic M.sh.

Bilateral acute angle-closure glaucoma following tramadol subcutaneous administration.

BACKGROUND: To report a case of bilateral acute angle closure-glaucoma following the use of subcutaneous Tramadol. CASE PRESENTATION: A 42-year-old healthy man with unremarkable past medical and ocular history, was admitted to the Orthopedic Department for surgical treatment of a bilateral open fracture of the femur following a road accident. Three hoursafterTramadolsubcutaneous injection, the patient complained of a bilateral acute painful visual loss with persistent vomiting. An ocular examination showed bilateral acute angle-closure-glaucoma. The patient was treated with topical anti-glaucoma therapy and intravenous Mannitol 20%.After resolution of ocular hypertension attack, NdYag laser peripheral iridotomy was performed on both eyes. After a follow-up period of 7 days visual acuity improved to 20/20 in both eyes and intraocular pressure returned to normal levels. CONCLUSIONS: This case highlights the risk of developing bilateral acute angle-closure glaucoma after Tramadol administration.

Multimodal imaging in a case of bilateral outer retinitis associated with mumps infection.

PURPOSE: To report the results of multimodal imaging of acute outer retinitis associated to mumps infection. METHODS: A patient with mumps-associated outer retinitis evaluated by color fundus photography, spectral domain optical coherence tomography (SD-OCT), optical coherence tomography angiography, fundus autofluorescence (FAF), fluorescein angiography (FA), and indocyanine green angiography (ICGA). RESULTS: We report a case of a 12-year-old boy who developed bilateral outer retinitis related to mumps. Ophthalmoscopy showed confluent areas of outer retinitis involving the posterior pole and the periphery with a centrifugal gyrate pattern. SD-OCT revealed a marked disorganization of the outer retinal layers with multiple highly reflective spicules. FA shows diffuse late hyperfluorescence with optic disk staining. ICGA shows macular and peripheral hyperfluorescent lesions with a geographical pattern in the late phases. The patient was treated with acyclovir and oral prednisone. Four weeks after presentation visual acuity remained unchanged, and retinal changes seen at the acute phase had resolved leading to extensive retinal atrophy and optic disk pallor. SD-OCT showed atrophy of the retinal pigment epithelial and outer retinal layers. FAF revealed scattered hyperautofluorescent lesions. Electrophysiology showed generalized retinal dysfunction. CONCLUSIONS: Mumps infection should be considered in the differential diagnosis of bilateral necrotizing outer retinitis in children and young adults. A multimodal imaging approach may help distinguish mumps-associated retinitis from other causes of viral retinitis and facilitate appropriate management.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH BEHÇET UVEITIS.

PURPOSE: To describe optical coherence tomography angiography (OCTA) findings in eyes with Behçet uveitis (BU) and to compare these findings with those of fluorescein angiography (FA). METHODS: Prospective, comparative, cross-sectional study. Patients presenting with clinically active BU involving the posterior segment were evaluated using FA, spectral domain optical coherence tomography (SD-OCT), and OCTA. Optical coherence tomography angiograms were reviewed and analyzed. Foveal avascular zone areas and vessel densities were also reported. RESULTS: Twenty-five patients (44 eyes) were included. Perifoveal microvascular changes were more frequently observed on OCTA than on FA (95.5 vs 59.1%; P < 0.001). Disruption of the perifoveal capillary arcade, areas of retinal capillary nonperfusion/hypoperfusion, and perifoveal capillary abnormalities, including rarefied, dilated, or shunting vessels were observed more frequently using OCTA than FA (40.9 vs 25%; P = 0.039, 86.4 vs 34.1%; P < 0.001, and 84.1 vs 36.4%; P < 0.001, respectively). Areas of retinal capillary nonperfusion/hypoperfusion were more frequently observed in the deep than in the superficial capillary plexus (81.8 vs 63.6%; P = 0.039). Capillary abnormalities and disorganization of the normal architecture of the capillary network were more frequent in the deep than in the superficial capillary plexus (P < 0.001). Foveal avascular zone area was not significantly larger in eyes with BU than in control group in both the superficial and the deep capillary plexuses (0.4 vs 0.34 mm; P = 0.23 and 0.72 vs 0.53 mm; P = 0.053, respectively). Capillary vessel density was significantly lower in eyes with BU than in control group in the deep capillary plexus (13.7 vs 17.2 mm 21; P = 0.004). CONCLUSION: OCTA allows better visualization and characterization of perifoveal microvascular changes than FA in eyes with active BU. The deep capillary plexus seemed to be more severely involved than the superficial capillary plexus.

Reappraisal of the management of Vogt-Koyanagi-Harada disease: sunset glow fundus is no more a fatality.

PURPOSE: Vogt-Koyanagi-Harada (VKH) disease is a primary autoimmune stromal choroiditis. Aim of the study was to gather a body of evidence from the literature and from experts that systemic corticosteroid combined with non-steroidal immunosuppressive therapy should become the standard of care in initial-onset VKH disease. METHODS: Literature was reviewed and leading experts in VKH were consulted in different parts of the world in order to put forward a consensus attitude in the management of initial-onset VKH disease. RESULTS: There was a substantial body of evidence in the literature that early aggressive and sustained corticosteroid and non-steroidal immunosuppressive therapy in initial-onset VKH disease allows to achieve full control of choroidal inflammation, eliminating any subclinical choroidal inflammation, and substantially reduces recurrences with improvement of anatomical and functional outcomes. This was in agreement with experts' opinion and practice. ICGA was the method of choice to monitor disease evolution. CONCLUSION: Since the choroidal space is easily accessible to systemic therapy and because inflammation in VKH disease is exclusively originating from the choroidal stroma, early and sustained treatment right at the onset of the disease process with dual corticosteroid and non-steroidal immunosuppressive therapy can result in full "healing" in many cases preventing sunset glow fundus which results from depigmentation from chronic uncontrolled inflammation.

Comparative effect of topical diclofenac and topical dexamethasone on anterior chamber flare and postoperative pain following rhegmatogenous retinal detachment surgery.

The purpose of this study is to compare the effect of topical diclofenac and topical dexamethasone on anterior chamber flare and postoperative pain following rhegmatogenous retinal detachment (RRD) surgery. This prospective study included 40 eyes of 40 patients treated for RRD. Twenty-eight patients underwent scleral buckling and 12 patients underwent 20-gauge pars plana vitrectomy (PPV). For each surgical procedure, patients were postoperatively randomly divided into two groups: the first group received topical dexamethasone phosphate 0.1 % four times daily for 28 days; the second group received topical diclofenac sodium 0.1 % three times daily for 28 days. The inflammatory reaction in the anterior chamber was measured with laser flare photometry preoperatively and 1, 7, 14, 28, and 90 days postoperatively. Pain level was evaluated with Scott's visual analog scale at day 1, 7, 14, and 28 postoperatively. For patients treated with scleral buckling, there was no significant difference between the two groups regarding mean aqueous flare at day 1 (p = 0.096), day 7 (p = 0.435), day 14 (p = 0.510), day 28 (p = 0.583), and day 90 (p = 0.423). The group who received diclofenac had significantly lower pain score at days 7, 14, and 28 (p = 0.048, p = 0.017, and p = 0.028, respectively). For patients treated with PPV, there was no significant difference between the two groups regarding mean aqueous flare at day 1 (p = 0.400), day 7 (p = 0.728), day 14 (p = 0.843), day 28 (p = 0.939), and day 90 (p = 0.568). Patients who received diclofenac had significantly lower pain score at days 7, 14, and 28 (p = 0.032, p = 0.030, and p = 0.023, respectively). Topical diclofenac seems to be as potent as topical dexamethasone in managing postoperative inflammatory response induced by surgery for RRD with better analgesic effect. Both of them are consequences of blood-aqueous barrier and blood-retinal barrier breakdown.

Anterior chamber aqueous flare, pseudoexfoliation syndrome, and glaucoma.

The purpose of this study is to evaluate anterior chamber aqueous flare (ACAF) in Tunisian patients with pseudoexfoliation (PEX) syndrome with or without associated glaucoma. This is a prospective, cross-sectional, comparative study including 53 patients (88 eyes) with PEX syndrome, 48 patients with PEX glaucoma (86 eyes), and 53 healthy sex-and age-matched control subjects (106 eyes). All patients underwent a complete ophthalmic examination and laser flare photometry. Mean ACAF was significantly higher in the PEX syndrome group in comparison with the control group (17.96 ± 10.05 vs 7.06 ± 2.95 ph/ms; p = 10(-4)), in patients with PEX glaucoma compared to PEX syndrome without associated glaucoma (27.99 ± 15.45 vs 17.96 ± 10.05 ph/ms; p = 10(-4)), in the PEX glaucoma group in comparison with control group (27.99 ± 15.45 vs 7.06 ± 2.95 ph/ms; p = 10(-4)), and in patients with unilateral PEX syndrome in comparison with contralateral-unaffected eyes (25.72 ± 14.88 vs 8.58 ± 3.45 ph/ms; p = 0.000). For patients with PEX syndrome, a high ACAF might be a predictor for the development of glaucoma. Further investigations are needed to clarify the role of laser flare photometry in predicting the risk of glaucoma in patients with PEX syndrome.

Clinical and multimodal imaging characteristics of acute Vogt-Koyanagi-Harada disease unassociated with clinically evident exudative retinal detachment.

The purpose of this study was to describe the clinical and multimodal imaging findings in acute Vogt-Koyanagi-Harada (VKH) disease without clinically evident exudative retinal detachment (ERD). We retrospectively reviewed the charts of 18 patients (36 eyes), diagnosed with acute VKH disease without clinically evident ERD. All patients underwent complete ophthalmic examination, fundus photography, optical coherence tomography (OCT), B-scan ultrasonography, fluorescein angiography (FA), and indocyanine green angiography (ICGA). Of 18 patients, twelve (66.7 %) were female and 6 (33.3 %) were male. Mean age was 39 years (range, 23-60). Ten patients had been referred with an erroneous diagnosis of primary optic nerve disorder (8; 44.4 %) or isolated anterior uveitis (2; 11.1 %). Anterior chamber or vitreous inflammatory reaction was noted in 22 eyes (61.1 %), each. Fundus findings included optic disc swelling in 30 eyes (83.3 %), retinal striae in 20 eyes (55.5 %), and yellowish deep lesions in 3 eyes (8.3 %). OCT showed a shallow, localized subclinical ERD in 18 eyes (50 %), and retinal pigment epithelial folds in 23 eyes (63.9 %). B-scan ultrasonography showed diffuse, low- to medium-reflective choroidal thickening in all eyes. FA disclosed delayed choroidal perfusion in at least one eye of all patients (100 %), mild pinpoint leakage in 21 eyes (58.3 %), optic disc hyperfluorescence in 35 eyes (97.2 %) and choroidal folds in 13 eyes (36.1 %). ICGA findings included delayed choroidal perfusion in 24 eyes (66.7 %), decrease in the number of large choroidal vessels in 36 eyes (100 %), fuzzy choroidal vessels in 35 eyes (97.2 %), and hypofluorescent dark dots in 28 eyes (77.8 %). The association of bilateral optic disc edema with retinal striae and intraocular inflammatory reaction highly suggests acute VKH disease. A multimodal imaging approach including fundus photography, OCT, B-scan ultrasonography, FA, and ICGA provides important clues for the definite diagnosis and help differentiate VKH disease from primary optic nerve disorders.

Parinaud's oculoglandular syndrome revealing subclinical Rickettsia conorii infection.

The purpose of this study was to report a case of Parinaud's oculoglandular syndrome associated with subclinical Rickettsia conorii infection. We report a case of a 66-year-old male patient presented with unilateral persistent granulomatous conjunctivitis in the left eye and an ipsilateral preauricular lymphadenopathy without associated systemic features. Laboratory evaluation showed a positive indirect immunofluorescence antibody test for R. conorii. The patient received a 2-week course of oral doxycycline, with subsequent complete resolution of all his symptoms. Rickettsial disease should be considered in the differential diagnosis of oculoglandular syndrome with or without associated systemic symptoms in any patient living in or returning from a specific endemic area.

The spectrum of presumed tubercular uveitis in Tunisia, North Africa.

The purpose of this study was to analyze the spectrum of presumed tubercular uveitis in Tunisia, North Africa. We retrospectively reviewed the clinical records of 38 patients (65 eyes) diagnosed with presumed tubercular uveitis at two referral centers in Tunisia, between January 2009 and December 2011. Mean age at presentation was 42.7 years. Twenty-four patients were women (63.2%) and 14 (36.8%) were men. Twenty-three eyes (35.4%) had posterior uveitis, 21 eyes (32.3%) had intermediate uveitis, 13 eyes (20%) had panuveitis, and 8 eyes (12.3%) had anterior uveitis. Ocular findings included vitritis in 67.7% of eyes, posterior synechiae in 47.7%, multifocal non-serpiginoid choroiditis in 23.1%, multifocal serpiginoid choroiditis in 21.5%, periphlebitis in 21.5%, and mutton-fat keratic precipitates in 20%. Anti-tubercular treatment was prescribed in 33 patients (86.8%) and was associated with systemic corticosteroids in 20 patients (52.6%) and periocular injections of corticosteroids in four patients (10.5%). After a mean follow-up of 14.2 months (range, 10-58), inflammation was controlled, with a significant improvement in visual acuity (VA) (p = 0.028). However, recurrences developed in two patients (5.3%). Final VA was better than 20/40 in 27 eyes (41.5%) and less than 20/200 in five eyes (7.7%). In Tunisia, all anatomic types are possible in tuberculosis-associated uveitis, but posterior and intermediate uveitis are more frequent. Vitritis, posterior synechiae, multifocal serpiginoid or non-serpiginoid choroiditis, and periphlebitis are the most common manifestations.

Optic nerve head drusen: a comparative study of 10 MHz and 20 MHz ultrasound probes.

The aim of this study was to evaluate and compare 10-MHz and 20-MHz ultrasonography in the assessment of patients with optic nerve head drusen (ONHD). The design of the study was prospective, comparative and cross-sectional. Ultrasonographic examination with a 10 and 20 MHz probe was performed in 45 eyes with suspected ONHD. The 20 MHz probe showed drusen in 43 eyes (95.5 %), while the 10 MHz probe revealed drusen in only 33 eyes (73.3 %, p = 0.0001). The 10 MHz probe showed surface drusen in 10 eyes (22.2 %), while the 20 MHz probe showed surface drusen in 14 eyes (31.1 %) (sensitivity 71.4 %; 95 % CI [47.6-95.1 %]). The 10 MHz probe showed buried drusen in 23 eyes (23.1 %), while the 20 MHz probe showed buried drusen in 29 eyes (64.4 %) (sensitivity 79.3 %; 95 % CI [56.6-86.2 %]). The sensitivity was 76.7 % with 10 MHz probe compared to a 20 MHz as gold standard. The use of 20 MHz probe increased the sensitivity of buried disc drusen by 1.5 times and surface disc drusen by nearly 2 times. Using the 10 MHz probe alone the false negative error rate was 83.3 %. The 20 MHz probe has shown itself to be an excellent method for the diagnosis of ONHD; it is more sensitive and reliable than 10 MHz probe and should be considered in the management of patients with clinical evidence of ONHD.

Final Diagnosis in Patients Referred with a Diagnosis of Neuroretinitis.

The purpose of this study was to determine final diagnosis of patients referred with a diagnosis of neuroretinitis. A retrospective study of 40 patients with optic disc oedema with macular star (ODOMS) referred with a diagnosis of neuroretinitis was conducted. The final diagnosis was neuroretinitis in 26 patients (65%), with most of these patients (96.1%) having unilateral involvement. Main underlying aetiologies included cat scratch disease (30.8%), rickettsiosis (19.2%), and idiopathic neuroretinitis (23.1%). The remaining 14 patients (35%) had ODOMS that had been mistaken for neuroretinitis. Of these patients, 42.8% were found to have a previously unknown malignant systemic hypertension in association with bilateral ODOMS. Neuroretinitis, usually unilateral, should be differentiated from other causes of unilateral or most often bilateral ODOMS that may masquerade as neuroretinitis, mainly malignant systemic hypertension. This is essential to avoid inappropriate work-up and management and subsequent potential visual or systemic morbidity.

Orbital infections: review of 28 cases.

BACKGROUND: Orbital infections (OI) are a serious disorder that may results in visual and systemic morbidity. AIM: To study epidemiologic data and outcome of OI in a tertiary eye care center. METHODS: Retrospective study of 28 patients (28 eyes) with OI. All patients underwent detailed ophthalmic examination, otolaryngology examination, and cranio-orbital computed tomography scan. All patients received parenteral probabilistic antibiotic treatment then adapted depending on the sensitivity of antibiogram and clinical evolution, associated or not to corticosteroid treatment. The mean follow-up was 14 months. RESULTS: The mean age of our patients was 35.9 years. Fifteen patients (54%) were male. Of 28 cases, retroseptal cellulitis was the most common, noted in 67.8% of cases. subperiosteal or orbital abscess was recorded in 28.6% of the cases. Sinusitis was the most common etiology, found in 39.3% of cases. Treatment was based on empirical broad spectrum systemic antibiotics in all cases. Surgical management was performed in 39.3% of cases. Bacteriological samples were obtained for 28.5% of patients, with Staphylococcus aureus the most frequently isolated pathogen (5 cases; 62.5%). The evolution was favorable with complete resolution without sequelae in 92.8% of the cases and improvement of visual acuity in 82% of cases. Causes of poor visual outcome were corneal perforation, cataract and retinal detachment. CONCLUSIONS: In our series, OI affects children and young adults. Their prognosis is generally favorable provided rapid and appropriate management.

CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.

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.