Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber's hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affects metabolism, and symptomatology includes type 2 diabetes mellitus (T2DM), obesity, hypogonadism and gynecomastia in males, progressive bilateral sensorineural hearing loss, cardiomyopathy, nonalcoholic fatty liver disease (NAFLD), cirrhosis, and chronic progressive kidney disease. The onset of the above symptoms may vary significantly. The ophthalmic manifestation is early onset cone-rod dystrophy that starts as progressive vision loss, photophobia, and nystagmus in the first months of life. An accurate diagnosis may enable specialists to facilitate a significantly positive effect in the everyday life of a patient. Genetic counseling may also be recommended for these patients. Diagnosis was confirmed by DNA testing, thus highlighting its necessity in everyday practice.

Peripapillary Pachychoroid Syndrome (PPS): Diagnosing and Treating a Rare Entity.

Two cases with peripapillary pachychoroid syndrome (PPS) along with the challenges concerning correct diagnosis and treatment are presented. In the first case, the patient presented with painless unilateral gradual visual loss. Fundoscopy and optical coherence tomography (OCT) revealed cystoid macular edema (CME) in the left eye (LE), extending from the temporal optic disc margin towards the fovea, with no additional findings. Enhanced-depth imaging- (EDI-) OCT provided additional information and increased choroidal thickness nasally to the macula and pachyvessels in the outer choroidal layer, findings supportive of PPS. Photodynamic therapy (PDT) was applied at the leakage sites. Two months later, CME and subretinal fluid (SRF) had resolved, and VA had significantly improved. In the second case, a patient presented with reduced vision and metamorphopsia bilaterally over the previous 5 days. Fundoscopy revealed CME in both eyes. OCT confirmed the presence of CME in the papillomacular area in the right eye; similarly, CME was recorded in the macula of the LE with SRF located subfoveally. EDI-OCT showed increased choroidal thickness in both eyes. Treatment was administered, originally with dorzolamide eye drops along with eplerenone tablets, and then dexamethasone eye drops that eventually led to significant anatomic and functional improvement. It is important for ophthalmologists to be able to recognize the unique clinical entity of PPS, as its resemblance to disorders with similar features may lead to misdiagnoses and unnecessary, or even incorrect, interventions.

Peripapillary Choroidal Neovascular Membrane Secondary to Sarcoidosis-Related Panuveitis: Treatment with Aflibercept and Ranibizumab with a 50-month Follow-Up.

A case of peripapillary choroidal neovascular membrane (PCNM) secondary to sarcoidosis-related panuveitis successfully treated with anti-vascular endothelial growth factor (anti-VEGF) agents and systemic immunomodulatory therapy is reported. Diagnosis and follow-up were based on fundoscopic, optical coherence tomography as well as fluorescein angiography findings. A 45-year-old female patient presented with sudden onset bilateral blurring of vision. Fundoscopy revealed bilateral granulomatous panuveitis with solitary peripheral granuloma in the right eye and PCNM in the left eye. Diagnostic work-up including conjunctival biopsy confirmed the diagnosis of sarcoidosis. Topical and systemic corticosteroids controlled the inflammation. Within 4 weeks, PCNM showed rapid enlargement (best-corrected visual acuity [BCVA]: 6/60) with foveal involvement. Monthly intravitreal aflibercept injections and systemic methotrexate were administered. After 5 aflibercept injections, anatomical and functional improvement was noted (BCVA: 6/6). Due to aflibercept unavailability, further treatment included ranibizumab injections. During a 50-month follow-up period, every anti-VEGF injection was followed by total NV regression and 6/6 BCVA. Both aflibercept and ranibizumab appear to be effective in the treatment of PCNM secondary to sarcoidosis.

Comparison of Chemokine CXCL-1 and Interleukin-6 Concentrations in the Subretinal Fluid and Vitreous in Rhegmatogenous Retinal Detachment.

Purpose: Comparison of IL-6 and CXCL-1 concentrations and CXCL-1/IL-6 ratio correlations with clinical parameters (RRD extent, duration, and proliferative vitreoretinopathy - PVR-grade) between subretinal fluid (SRF) and vitreous during rhegmatogenous retinal detachment (RRD) complicated with PVR.Methods: A total of 71 eyes of 71 patients with primary RRD possibly complicated with PVR were included; 36 eyes treated with scleral buckling and 35 eyes with pars-plana vitrectomy. Enzyme-Linked Immuno-sorbent Assay was employed for CXCL-1/IL-6 measurement (ng/ml).Results: Correlation analysis between mean CXCL-1/IL-6 ratio and clinical parameters revealed non-significant results. CXCL-1/IL-6 ratio was significantly elevated in phakic eye vitreous. Optimum circumstances for elevated chemokine levels during RRD were considerable extent (2-3-quadrant) and duration (29-60-day) complicated with PVR C.Conclusions: SRF appears to be characterized by greater chemokine concentrations while vitreous retains several structural characteristics that may assist in investigating inflammation and improving understanding of underlying pathophysiological mechanisms during RRD complicated with PVR.

The Acute Effects of Electronic Cigarette Vaping and Tobacco Cigarette Smoking on Choroidal Thickness in Young, Healthy, Habitual, Dual Smokers.

The present study aims to evaluate and compare the acute effects of tobacco cigarettes (TC) smoking and electronic cigarette (EC) vaping on foveal and choroidal thickness (CT) in young, healthy, dual smokers. Participants underwent four trials: 5 min TC; 5 min EC; 30 min EC; and 60 min nothing (sham trial). Scans before and immediately after each trial were obtained using spectral domain optical coherence tomography with the enhanced depth imaging mode. Changes in central foveal thickness (CFT), subfoveal choroidal thickness (SFCT), and CT at fourother points, 500 µm and 1000 µm temporally and nasally to the fovea, were measured. Forty-seven participants (33 male, 14 female; mean age 24.85 ± 1.57 years) were included. They smoked 13.53 ± 5.27 TCs/day for 6 ± 2.3 years and vaped ECs for the past 2.4 ± 1.08 years. We did not observe any statistically significant change in SFCT, CFT, and CT of the other points after any of the fourtrials. The acute changes in CFT and CT after EC vaping or TC smoking did not differ significantly compared to the sham trial. Smoking and vaping does not seem to result in statistically significant acute alterations in foveal and CT in young, dual smokers.

An Unusual Case of Perineural Infiltration and Orbital Invasion of Squamous Cell Carcinoma Associated with Actinic Keratosis.

Actinic keratosis is considered a precancerous lesion, constituting a precursor to squamous cell carcinoma (SCC) formation. Perineural invasion has been observed in patients with cutaneous carcinoma due to local subcutaneous tissue destruction and primarily involves the trigeminal nerve due to rich innervation provided by the supraorbital nerve in addition to the facial nerve. An unusual case of perineural infiltration and orbital invasion of squamous cell carcinoma associated with actinic keratosis is presented. A 70-year-old Caucasian woman presented with complete left eye ophthalmoplegia, total left upper-eyelid ptosis, and facial pain with paresthesia. Computed tomography revealed a process of the soft tissues in the left cheek infiltrating the infraorbital canal, pterygopalatine fossa, inferior orbital fissure, and left cavernous sinus with periosteal adherence. Magnetic resonance imaging revealed pathological extension via the left infraorbital canal with a considerable area of necrosis. Treatment of facial actinic keratosis may not prevent malignant transformation and can delay diagnosis and treatment of SCC. A deep biopsy appears to be essential for a correct diagnosis. Perineural spread of cutaneous SCC may be characterized by insidious progression in the cranial trigeminal nerve, abnormal ocular motility, diplopia, or external ophthalmoplegia.

Caseous calcification of the mitral valve annulus: a rare cause of bilateral cerebral and ocular embolisation.

A 65-year-old woman presented with sudden bilateral visual loss of recent onset. She was recently diagnosed with multiple acute stroke syndrome for which she was commenced on antiplatelet therapy. Funduscopic examination revealed bilateral inferotemporal retinal artery occlusions. The recent history of multiple cerebral infarcts combined with the current ocular findings prompted a transoesophageal echocardiogram which successfully revealed caseous calcification of the mitral valve annulus as the source of the numerous sequential emboli, a finding which the conventional transthoracic echocardiogram had failed to disclose as a result of suboptimal image quality. Transoesophageal echocardiography should always be considered as part of the diagnostic workup of retinal arterial occlusive disease, particularly in bilateral lesions, due to its higher yield in identifying posteriorly located cardiac valvular and aortic lesions.

A Focus on the Epidemiology of Uveitis.

PURPOSE: Uveitis is a common, sight-threatening inflammatory ocular disease and includes multiple heterogeneous clinical entities. The prevalence of various types of uveitis depends upon multiple factors, such as age, sex, race, geographic distribution, environmental influence, genetics, and social habits. Epidemiologic research of uveitis is necessary to understand the etiology and immunopathogenesis of this group of diseases. The present study attempts to concentrate on the most recent information on the epidemiology of uveitis and compare it with previous knowledge. METHODS: An extensive literature search was performed in the Medline database (PubMed) and included surveys completed until 2015. Articles that reported prevalence and incidence were studied. References cited in the articles were also studied. RESULTS: The incidence and prevalence of uveitis differs based on age, anatomic location of the inflammatory process (anterior, intermediate, posterior uveitis, panuveitis), gender, histopathology (granulomatous, non-granulomatous), type of inflammatory process (acute, chronic, recurrent), and etiology (infectious, non-infectious). Prevalence differs by geographic location. Idiopathic anterior uveitis is the most common form of uveitis in the community. Infectious causes are common (30-60%) in the developing countries. Herpes and toxoplasmosis are the leading infectious causes of uveitis. Non-infectious uveitic conditions are generally more common in the developed world. An increase in the prevalence of infectious etiologies, including tuberculosis and syphilis, has been seen in developed countries. Introduction of new treatment options has also changed patterns of disease. CONCLUSIONS: Introduction of new uveitis entities, changes in the incidence of already known disease and increased availability of diagnostic testing have all altered the epidemiology of uveitis in recent years. Knowledge of regional patterns of disease is essential. A more detailed classification of uveitis with the establishment of uniform diagnostic criteria and prospective population based studies would certainly benefit epidemiologic research and clinical practice.

Amblyopia due to intermediate uveitis as the presenting symptom of Crohn's disease in a 6-year-old boy.

A 6-year-old boy presented with unexplained unilateral low visual acuity. Best-corrected visual acuity was counting fingers in the right eye and 20/20 in the left eye. Fundus examination of the right eye revealed intermediate uveitis, with moderate vitritis, snowballs, and snowbanking. Infectious and noninfectious conditions known to be associated with intermediate uveitis were excluded. Vitreous inflammation gradually resolved with oral steroids, and amblyopia treatment with left eye patching was advised. Several months later the boy suffered acute monoarthritis and episodes of mucopurulent diarrhea; a terminal ileum biopsy was consistent with Crohn's disease. This case of Crohn's disease and uveitis is unusual in that ocular inflammation preceded intestinal involvement, with the atypical feature of chronic intermediate uveitis.

Guidelines for the Management of Wet Age-Related Macular Degeneration: Recommendations from a Panel of Greek Experts.

PURPOSE: To propose guidelines for the management of patients with wet age-related macular degeneration (wAMD), taking into account the results of large multicenter studies and clinical experience of retina experts. METHOD: A team of retina experts developed a consensus paper after three consecutive meetings. The group was focused on guidelines to help clinical decision-making around the definition of successful treatment and the definition of non-response to therapy. RESULTS: Parameters suggestive of a successful response to treatments included: any gain in best corrected visual acuity (BCVA) or vision loss that is less than 5-10 Early Treatment Diabetic Retinopathy Study (ETDRS) letters, reduction of central retinal thickness, partial or complete absorption of subretinal fluid (SRF), reduction of intraretinal fluid, reduction of pigment epithelial detachment or restoration of the anatomy of outer retinal layers. Non-response to current treatment was considered in the case of loss of BCVA greater than 10 ETDRS letters, increased retinal edema or increase of SRF as evidenced by optical coherence tomography or new bleeding in biomicroscopy. CONCLUSION: The introduction of anti-VEGF agents revolutionized the treatment of wAMD. Given the complexity of the disease, the emerging new agents and the difference of cases recruited in clinical trials compared to those appearing in every-day practice, it is essential to individualize treatment options taking into account the results of clinical trials.

Free-Floating Iris Pigmented Epithelial Cyst in the Anterior Chamber.

An unusual case of a free-floating peripheral pigmented cyst in the anterior chamber is presented. A 30-year-old Caucasian male presented reporting a visual defect on his right eye in prone position over the past year. Slit-lamp examination revealed a small pigmented free-floating peripheral iris cyst at the 6 o'clock position in the anterior chamber. Ultrasound biomicroscopy revealed an unfixed epithelial pigmented cyst with an extremely thin wall and no internal reflectivity. Due to the lack of severity of visual disturbance of the patient, no surgical treatment was indicated. The patient is to be followed up annually and advised to return immediately in case of pain or any visual symptoms. Free-floating iris cysts in the anterior chamber are uncommon and remain stable in the majority of cases. Management includes only regular observation until any complications arise.

Training of Resident Ophthalmologists in Cataract Surgery: A Comparative Study of Two Approaches.

Purpose. To evaluate and compare the efficacy of two different training methods in resident-performed phacoemulsification surgery. Methods. 502 eyes of 467 patients who underwent resident-performed phacoemulsification were included in the study by reviewing their medical records. Residents were allocated into two groups according to the method applied during their training in cataract surgery; Group A included residents that were trained with the "step-by-step" method and Group B those trained with the "one-step" method. Primary outcome was the incidence of main complications, defined as posterior capsular ruptures and/or zonular dehiscence with vitreous loss. Results. Each resident performed a median of 63 phacoemulsification surgeries. A statistically significant difference (p = 0.0032) was noted in the main complications rate between the two groups, yielding a mean of 17.3% in Group A and 7.25% in Group B. Other intraoperative complications were not shown to differ statistically significantly between study groups (p > 0.05). Among the first 40 surgeries of each resident, main complications rate differed also statistically significantly (p = 0.0048) between Group A (21.67%) and Group B (8.5%), while a better surgical performance-yielding statistical significance in Group A (p = 0.017) was indicated in both groups between the 20th and the 30th procedure. Conclusions. Training in cataract surgery using the "one-step" method may lead to an improvement in surgical competency, when measured by complications rates and, therefore, to significantly better quality of training for resident ophthalmologists.

Macular edema after uncomplicated cataract surgery: a role for phacoemulsification energy and vitreoretinal interface status?

PURPOSE: To study postoperative macular thickness fluctuations measured by spectral-domain optical coherence tomography (SD-OCT) and to investigate a potential correlation among macular edema (ME) incidence, cumulative dissipated energy (CDE) released during phacoemulsification, and vitreoretinal interface status. METHODS: This is a prospective, cross-sectional study of 106 cataract patients with no macular disorder who underwent phacoemulsification. Best-corrected visual acuity measurement, slit-lamp examination, OCT scans were performed preoperatively and 30 and 90 days postoperatively. The intraoperative parameters measured were CDE and total phacoemulsification time. The SD-OCT parameters assessed were central subfield thickness (CST), cube average thickness (CAT), cube macular volume, vitreoretinal interface status, and presence of cystoid or diffuse ME. RESULTS: Four patients (3.8%) developed subclinical ME. Regarding ME, there was no significant difference between patients with presence or absence of posterior vitreous detachment (chi-square, p = 0.57), although 75% of ME cases were observed in patients with attached posterior vitreous. With regard to comparison between eyes with and without subclinical CME incidence, CDE (p = 0.05), phacoemulsification time (p = 0.001), CST at month 1 (p = 0.002), cube macular volume at month 1 (p = 0.039), and CAT at month 1 (p = 0.050) were significantly higher in the subclinical CME group. CONCLUSIONS: This study provides evidence that OCT macular thickness parameters increase significantly at first and third month postoperatively and that the incidence of pseudophakic ME can be affected by CDE.

Significant reduction of diabetic macular edema following intravitreal ranibizumab injection in the fellow eye.

A significant therapeutic effect in the fellow eye after intravitreal ranibizumab injections was observed in a 39-year-old diabetic male. The patient was followed-up with fluorescein angiography (FA) and Optical Coherence Tomography (OCT). On referral, best-corrected visual acuity (BCVA) was 6/60 in the right eye and Counting Fingers in the left eye. FA revealed foveal leakage in both eyes. OCT revealed diabetic and cystoid macular edema (DME-CME) in both eyes. The patient was treated with two intravitreal ranibizumab injections in the left eye. BCVA was 6/15 and 6/30 one month after the last injection. OCT revealed significant improvement (DME elimination and significant CME improvement) in both eyes, despite the fact that only the left eye was treated. It is conceivable that, in this eye, chronic vascular damage was limited and a minimal quantity of ranibizumab had a positive effect on vascular permeability, resulting in DME resolution.

Total extrusion of a silicone encircling band through the muscle insertions presenting as orbital cellulitis.

INTRODUCTION: We present an unusual case of anterior migration of a solid silicone encircling band 9 years after scleral buckling surgery. MATERIALS AND METHODS: An 83-year old woman presented with acute onset of pain and discharge in her left eye. She had undergone cataract surgery complicated by endophthalmitis and managed with pars plana vitrectomy nine years earlier. RESULTS: The patient was treated with transection and removal of the extruding encircling band. Pain ceased within two days. Two weeks postoperatively, the conjunctiva was well adapted without any discharge, ocular motility was as preoperatively. DISCUSSION: Anterior migration of an encircling band through all four rectus muscle insertions is a very uncommon late complication following scleral buckling surgery. The remarkably good preservation of ocular motility in our case can be attributed to the slow advancement of the encircling band over nine years, which allowed a gradual reattachment of the rectus muscle insertions to the sclera.

Comparison of interleukin-6 and matrix metalloproteinase expression in the subretinal fluid and the vitreous during proliferative vitreoretinopathy: correlations with extent, duration of RRD and PVR grade.

INTRODUCTION: The full extent of IL-6 involvement in PVR pathophysiology has not yet been comprehensively investigated. The aim of this study was the comparison of the IL-6 effect on MMP expression between SRF and the vitreous in the context of RRD complicated by PVR. MATERIALS AND METHODS: Thirty-one SRF samples from 31 eyes of 31 consecutive patients suffering from RRD with PVR were collected during treatment by scleral buckling. Twenty-eight vitreous samples from 28 eyes of 28 RRD patients with PVR were collected during surgical management with pars plana vitrectomy (PPV). Enzyme Linked Immunosorbent Assay was employed for the measurement of MMP-1, -3, -8 and TIMP-1 concentrations (in ng/ml). MMP gelatinolytic activity was determined with the use of gelatin zymography analysis using sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). RESULTS: Correlation analysis in the SRF revealed a significant correlation between MMP-1/IL6 and RRD duration. Regression analysis in the SRF revealed a significant correlation between the MMP-9/IL-6 and RRD extent. In the same fluid, with respect to PVR grade, ANOVA revealed a significant relationship with the proMMP-2/IL-6, MMP-2/IL6 and TIMP-1/IL-6 ratios. Graphical representation of the results revealed that, between the SRF and vitreous groups, significant peak values were observed for all MMP/IL-6 and TIMP-1/IL-6 ratios included in this study with the exception of the MMP-2/IL-6 ratio. CONCLUSIONS: It appears that there is a significant correlation between the presence of IL-6 and MMP/TIMP ratio in the SRF, indicating that IL-6 may contribute to the increased MMP/TIMP ratio during PVR.

Chemokine CXCL-1 expression in the subretinal fluid during rhegmatogenous retinal detachment.

PURPOSE: To investigate the expression of chemokine CXCL-1 in the subretinal fluid (SRF) during rhegmatogenous retinal detachment (RRD) and identify potential correlations with number of quadrants involved and duration of the detachment. METHODS AND RESULTS: Inclusion criteria were patients aged 18 years or older and primary RRD possibly complicated by proliferative vitreoretinopathy (PVR). CXCL-1 levels were measured in 36 SRF samples from 36 RRD patients. Mean CXCL-1 levels (102 ± 37 pg/mL) were significantly higher (p = 0.050) compared to controls. CXCL-1 levels correlated significantly with age (p = 0.001) and RRD duration (p = 0.002). Maximum CXCL-1 levels coincided with total RRD, 29- to 60-day duration and PVR grade C. CONCLUSIONS: The findings of this study may contribute to increased understanding regarding the role of CXCL-1 during the onset and progression of the wound healing process in the context of RRD and PVR.

Measurements of elastic modulus for human anterior lens capsule with atomic force microscopy: the effect of loading force.

The purpose of the study was to appraise the effect of loading force magnitude on the determination of the elastic modulus of the anterior lens capsule through atomic force microscopy. Four human anterior lens capsules taken during phacoemulsification cataract surgery were studied, free of epithelial cells, with atomic force microscopy. For the experiment, five different indentation loading forces were applied to near areas of the specimen. Experimental data was exported and analyzed according to the Hertz model to obtain the Young's modulus with regards to the elastic behavior of the material. Force-distance curves were acquired by applying a load of 2, 5, 10, 20 and 30 nN. When examining the results it was evident that determination of Young's modulus of the anterior lens capsule is dependent on the loading force concerning the examined range. Loading forces of 10 and 20 nN led to results without significant difference (p > 0.05) and more reproducible (coefficients of variation 12.4 and 11.7 %, respectively).

Macular hole formation in a patient with Irvine-Gass syndrome: coincidence or rare complication?

BACKGROUND: Macular edema (ME) is caused by abnormal retinal capillary permeability and has also been described as a postoperative complication of cataract surgery (Irvine-Gass syndrome). OBJECTIVE: To present a patient with Irvine-Gass syndrome in the right eye complicated with a macular hole (MH) in the same eye and possible associations between these two entities. CASE REPORT: A 72-year-old male with a history of uneventful bilateral cataract surgery was followed-up with biomicroscopy and optical coherence tomography (OCT). Four weeks after cataract surgery oculus dexter (OD), there was progressive visual deterioration (best corrected visual acuity [BCVA]: 0.5). OCT disclosed cystoid ME. A parabulbar triamcinolone injection, dexamethasone 0.1% and ketorolac 0.4% eye drops, both 4 times per day OD were administered. Six weeks later (BCVA OD: 0.2), OCT revealed cystoid ME and full-thickness MH. CONCLUSION: ME secondary to diabetes or central retinal vein occlusion may lead to MH by inducing focal vitreomacular traction and by triggering inflammatory mechanisms which facilitate a marked thinning of the fovea. MH may occur even in cases of pseudophakic ME, representing a rare complication of Irvine-Gass syndrome.

Surgical outcomes in phacoemulsification after application of a risk stratification system.

BACKGROUND: The purpose of this study was to determine whether application of a risk stratification system during preoperative assessment of cataract patients and subsequent allocation of patients to surgeons with matching experience may reduce intraoperative complications. METHODS: Nine hundred and fifty-three consecutive patients (1109 eyes) undergoing phacoemulsification cataract surgery were assigned to two groups, ie, group A (n = 498 patients, 578 eyes) and group B (n = 455 patients, 531 eyes). Patients from group A were allocated to surgeons with varying experience with only a rough estimate of the complexity of their surgery. Patients from group B were assigned to three risk groups (no added risk, low risk, and moderate-high risk) according to risk factors established during their preoperative assessment and were respectively allocated to resident surgeons, low-volume surgeons, or high-volume surgeons. Data were collected and entered into a computerized database. The intraoperative complication rate was calculated for each group. RESULTS: The intraoperative complication rate was significantly lower in group B than in group A (group A, 5.88%; group B, 3.2%; P < 0.05). Patients from group B with no added risk and allocated to resident surgeons had a significantly lower rate of intraoperative complications than those from group A allocated to resident surgeons (group A, 7.2%; group B, 3.08%; P < 0.05). CONCLUSION: Our study demonstrates that allocation of cataract patients to surgeons matched for experience according to a uniform and reliable preoperative assessment of their risk of complications allows for better surgical outcomes, especially for resident surgeons.