Juvenile Xanthogranuloma–A Rare Cause of Unilateral Orbital Swelling in an Elderly Patient

Objective: To report the clinical and pathologic features of an elderly patient with a unilateral orbital swelling and proptosis caused by Juvenile Xanthogranuloma diagnosed and confirmed by orbital biopsy.

Design: Interventional case report.

Participants: One patient.

Intervention: Steroids (Medrol dose pack) and radiation.

Main Outcome Measures: Unusual clinical presentation and pathological features of Juvenile Xanthogranuloma in the orbit.

Conclusions: Juvenile Xanthogranuloma affecting one orbit is very rare with unilateral involvement in an elderly patient. Steroids and radiation therapy were very effective in treatment and provided impressive results.     

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene

Purpose: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors.

Materials: Retrospective case series.

Methods: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded.

Results: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased.

Conclusions: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.     

Use of Aqueous Humor and Flow Cytometry in Ocular Sarcoidosis Diagnosis

Purpose: To report the use of flow cytometry on aqueous fluid to diagnose sarcoidosis in a patient with recurrent granulomatous anterior uveitis.

Methods: Case report.

Results: Flow cytometry on aqueous fluid demonstrated a CD4/CD8 ratio >9.5, consistent with a diagnosis of sarcoidosis.

Conclusions: Flow cytometry on aqueous fluid may offer an additional pathway for diagnosing sarcoid anterior uveitis.     

Giant Orbital Hydrocystoma in Children: Case Series and Review of the Literature

Objective: To describe the clinical features, ancillary diagnostic studies, and treatment outcomes in a cohort of pediatric patients with giant orbital hydrocystomas.

Design: Retrospective case series.

Participants: Pediatric patients with giant orbital hydrocystomas treated in the practice of one surgeon (PDL).

Methods: A retrospective review of the clinical charts of pediatric patients with orbital hydrocystoma was performed and diagnostic information collected. Results were reviewed and compared with reported clinical data in the literature.

Main Outcome Measures: Clinical presentation and histopathological findings of pediatric orbital hydrocystomas.

Results: Three pediatric cases of giant orbital hydrocystoma were encountered, each with an unusual feature, including deep orbital location, occurrence following trauma, and eccrine pathology.

Conclusion: Giant orbital hydrocystomas may present in the pediatric population. Ophthalmologists should be cognizant of this entity when evaluating a child with a large, cystic orbital mass.     

Leuconostoc as a Cause of Endophthalmitis Post-intravitreal Injection of Ranibizumab

Purpose: The authors report a case of endophthalmitis after intravitreal injection of ranibizumab.

Methods: After searching for extensive laboratory tests to isolate the etiologic agent

Results: The agent was determined as Leuconostoc mesenteroides, gram-positive cocci, vancomycin resistant.

Discussion: Considerations regarding this bacterium were done by calling attention to its rarity, difficulty of isolation, and action on secondary comorbidities as opportunistic pathogen.     

Comparison of Subtenon Triamcinolone Acetonide Injection with Topical Nepafenac for the Treatment of Pseudophakic Cystoid Macular Edema

Purpose: To compare the efficacy and safety of subtenon triamcinolone acetonide (TA) injection with topical nepafenac 0.1% for the treatment of pseudophakic cystoid macular edema (CME).

Methods: In this prospective study, the TA group comprised 24 eyes and the nepafenac group 24 eyes. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), intraocular pressure measurements, and slit-lamp fundoscopy were performed in all subjects at baseline, 1, 2, 3, and 6 months.

Results: Changes in BCVA and CRT over four follow-up visits were statistically significant (p<0.001). The mean CRT decreased from 513.3 to 318.9 μm in the TA group and from 483.7 to 278.0 μm in the nepafenac group. This reduction was statistically significant (p<0.001 for both groups).

Conclusions: Our visual and OCT results suggest that both treatment modalities are effective with few side-effects. However, nepafenac is more efficacious than subtenon TA in terms of visual gain and its correlation with the reduction in CRT.     

Varicella Zoster-related Occlusive Retinal Vasculopathy—A Rare Presentation

Purpose: To report a case of occlusive retinal vasculopathy following varicella zoster infection in an immunocompetent adult.

Design: Observational case report.

Methods: A patient with defective vision following chickenpox was evaluated with fluorescein angiography, spectral domain optical coherence tomography and fundus auto fluorescence.

Results: Fundus showed multiple cotton wool spots and a well-demarcated zone of retinal ischemia in the posterior pole with normal optic disc without any evidence of anterior or posterior uveitis. Fluorescein angiography, spectral domain optical coherence tomography and fundus auto fluorescence findings revealed occlusive vasculopathy as the cause of defective vision.

Conclusions: We report a hitherto undescribed case of purely occlusive vasculopathy following varicella zoster infection without features of vasculitis or anterior and posterior uveitis in an immunocompetent individual.     

Retinal capillaritis in a CRB1-associated retinal dystrophy

Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).

Methods: A case report.

Results: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.

Conclusions: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.     

Intraocular Lymphoma Masquerading as Recurrent Iridocyclitis: Findings Based on in vivo Confocal Microscopy

Purpose: To emphasize the application prospects of in vivo confocal microscopy (IVCM) in distinguishing intraocular lesions from inflammatory and neoplastic diseases.

Methods: Retrospective case report.

Results: A patient with neoplastic masquerade syndrome initially underwent IVCM examination. After six separate intravitreal injections of 400 mg/0.1 ml methotrexate, IVCM revealed a complete remission of intraocular lymphoma.

Conclusions: Although IVCM findings alone are not enough to diagnose intraocular neoplasm with absolute certainty, they can provide useful indication for distinguishing between intraocular inflammatory diseases and neoplasms.     

Stroke Due to Cerebral Vasculitis in a Patient with Relentless Placoid Chorioretinitis

Purpose: To report the first case of stroke in a patient with relentless placoid chorioretinitis.

Methods: Observational case report.

Results: A 20-year-old female with newly diagnosed relentless placoid chorioretinitis was urgently evaluated for unilateral paresthesias. She was found to have acute bilateral pontine strokes and cerebral vasculitis on magnetic resonance imaging of the brain and cerebral angiography.

Conclusions: We report the first case of stroke due to cerebral vasculitis in a patient with relentless placoid chorioretinitis. This case emphasizes the need for timely evaluation of neurological symptoms in patients with this ocular diagnosis.     

Dengue Fever Presenting as Purtscher-like Retinopathy

Purpose: To report the fundus manifestations and spectral-domain optical coherence tomographic (SD-OCT) features of dengue fever presenting as Purtscher-like retinopathy.

Methods: Retrospective review of two cases of dengue fever.

Results: Color fundus photograph revealed the presence of cotton-wool spots in a Purtscher-like configuration in the posterior pole of all study eyes. SD-OCT demonstrated increased reflectivity signal in the inner retinal layers, and after a variable follow-up period, there was complete disappearance of cotton-wool spots and persistence of the hyperreflectivity signal.

Conclusion: We report two unique cases of dengue fever associated with retinal lesions in a configuration of Purtscher-like retinopathy.     

Rituximab and Acute Retinal Necrosis in a Patient with Scleromalacia and Rheumatoid Arthritis

Background: Rituximab is a widely used biologic agent, which has shown favourable results in the treatment of vasculitis. But immunosuppressive treatment also bears the risk of severe complications.

Methods: A patient with rheumatoid arthritis, progressive scleromalacia, and acute retinal necrosis on therapy with rituximab is reported.

Results: For the first time, a correlation between rituximab and acute retinal necrosis in a patient with progressive rheumatoid scleromalacia is shown.

Conclusions: Although rituximab is a promising biologic agent for the treatment of autoimmune diseases, it bears the risk of reactivation of viral infections, including the onset of acute retinal necrosis.     

Photoreceptor Cell Injury Starts in the Initial Stage of Vogt–Koyanagi–Harada Disease

Purpose: To demonstrate photoreceptor cell injury in Vogt-Koyanagi-Harada (VKH) disease.

Methods: The SD-OCT and FAF tests of 16 patients diagnosed with VKH disease that was followed up from the initial stage to the convalescent stage were reviewed.

Results: In the initial stage of VKH disease, there was hyperautofluerescence around the macular edema. In the convalescent stage of VKH disease, loss of photoreceptor and injury of RPE have been detected by OCT scan at the same area, which was corresponded with the abnormalities in FAF.

Conclusions: The VKH disease causes photoreceptor injury starting in the initial stage of the disease.     

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

Background: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have been detected.

Purpose: To identify the underlying genetic defect in a five-generation Chinese family affected with adRP and to study the genotype-phenotype relationship of this family.

Methods: Detailed clinical investigations were undertaken and peripheral blood samples were collected from 25 individuals. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. Exons and adjacent splice junctions of the candidate gene were amplified and sequenced.

Results: This adRP family exhibited an incomplete penetrance of the RP phenotype. In affected individuals, age of disease onset was from infancy to 4 years of age. Typical RP features were associated with this mutation. Linkage analysis identified a maximum two-point LOD score of 3.20 with D19S418, which is close to PRPF31. A mutation PRPF31: (c.358-359 del AA) was identified by linkage analysis.

Conclusions: A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.     

Multiple Sclerosis-related Uveitis: Does MS Treatment Affect Uveitis Course?

Purpose: Few data are available regarding the optimal treatment of multiple sclerosis (MS)-related uveitis. The aim of this study was to describe clinical features of MS-associated uveitis and determine how MS treatment affects the course of uveitis.

Methods: Retrospective, multicenter study. Patients were divided into two groups according to the use (group 2) or not (group 1) of immunomodulatory drugs. Characteristics of uveitis and treatment were reviewed.

Results: A total of 68 eyes from 36 patients (17 in group 1 and 19 in group 2) were included. All patients were treated with topical and/or systemic steroids for uveitis. Uveitis occurred 1–17 years prior to neurologic symptoms in 78% of patients. Uveitis was more severe in group 2 (p<0.05), with a tendency toward a higher rate of chronic uveitis (p = 0.06).

Conclusions: MS-related uveitis has often a favorable evolution. Patients on interferon-beta have more severe and chronic uveitis. As far as we are concerned, interferon-beta given on the sole indication of uveitis is not recommended. If steroid-sparing agent is required for intraocular inflammation, immunosuppressive drugs should be considered.     

Macular hole in Stargardt disease: Clinical and ultra-structural observation

Purpose: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach.

Method: Case report.

Results: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy.

Conclusion: Vitreo-retinal surgery could represent a therapeutic option to treat vitreo-retinal interface abnormalities associated with inherited retinal diseases.     

Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa

Purpose: Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials.

Methods: We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012. Central macular thickness (CMT) was measured using spectral domain optical coherence tomography.

Results: Data were available for 81 patients and 162 eyes. After multivariable analyses, older age, earlier age of onset of symptoms, and thicker CMT were associated with lower visual acuity. Gender and inheritance pattern were not associated with visual acuity. Each decade older age, younger age of onset, and thicker CMT was associated with 0.12, 0.10, and 0.11 worse logarithm of the minimal angle of resolution units of visual acuity, respectively (p < 0.05 for all).

Conclusions: Age, age of onset, and CMT are associated with visual acuity and important factors to measure in studies of retinitis pigmentosa.     

Boston Type I Keratoprosthesis Implantation Following Autologous Submandibular Gland Transplantation for End Stage Ocular Surface Disorders

Purpose: To describe the results of Boston keratoprosthesis implantation in a patient with Stevens–Johnson syndrome following autologous submandibular gland transplantation.

Design: Observational case report.

Methods: We report the case of a man diagnosed with Stevens–Johnson syndrome. Autologous submandibular gland transplantation was performed in the right eye in 2008 to ameliorate tear film deficiency. Due to the improvement in the microenvironment of the ocular surface, Boston keratoprosthesis implantation was performed in the right eye in 2011.

Results: He maintained a VA of 20/100 for 12 months. At the last follow-up visit (54 months), his VA had declined to finger count level due to de novo glaucoma, which was treated with glaucoma drainage device implantation, cyclophotocoagulation and topical anti-glaucoma medications.

Conclusions: The procedures described provide patients with end-stage ocular surface disease an option to lessen the severity of keratoconjunctivitis sicca and to regain their VA.     

Enucleation Refusal for Retinoblastoma: A Global Study

Background: Enucleation (eye removal) is often the only curative treatment for the childhood eye cancer retinoblastoma, yet parental refusal of enucleation commonly contributes to treatment delay and poor survival globally.

Methods: Physicians who treat retinoblastoma were surveyed to glean underlying reasons for treatment refusal.

Results: Refusal rates were higher when less time was spent with parents explaining retinoblastoma/enucleation, and where fewer support services were available. Reasons for refusal included parental belief in alternative treatments, culture, and social stigma.

Conclusions: We suggest strategies to increase parental compliance with enucleation and save the lives of children with retinoblastoma.     

Roth Spots in Ocular Toxoplasmosis

Purpose: To report a case with unilateral preexisting ocular toxoplasmosis (OT) and newly occurred active retinochoroidal inflammation associated with white-centered retinal hemorrhages (Roth spots) in the healthy eye.

Design: Case report.

Methods: A 20 year-old man presented with a decrease of visual acuity in his right eye associated with 2+ cells in the anterior chamber. Ophthalmoscopy revealed an active retinochoroidal lesion on the upper nasal border of the optic disc associated with local hemorrhage and vitritis. The posterior pole presented white-centered flame-shaped retinal hemorrhages.

Results: Toxoplasmosis serology showed an IgG titer >300IU/ml and a negative IgM titer. A complete blood count revealed no abnormalities; other serologies were negative. After 2 weeks of treatment with sulfadiazine, pyrimethamine, folinic acid and prednisone, although the peripapillary lesion was still active, the Roth spots disappeared.

Conclusion: OT may be one differential diagnosis of patients suffering Roth spots in association with retinochoroidal inflammation.