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.     

Impact of Superior Oblique Transposition on Primary Position Deviation,a Pattern and Intorsion in Third Nerve Palsy

Purpose: To evaluate the role of superior oblique transposition on primary position alignment, A pattern, and intorsion in third nerve palsy.

Methods: Ten patients with isolated, unilateral third nerve palsy were included in this prospective study. The patients were treated by conventional surgery on horizontal recti together with superior oblique transposition by Scott’s procedure in the paretic eye.

Results: Pre-operative primary horizontal deviation was 60-80 PD (mean 70.00±7.45 PD). Pre-operative primary hypotropia was 15-22 PD (mean 18.80±2.48 PD). Mean A-pattern was 17.80±2.65 PD. All patients included in the study had some degree of objective torsion as measured by Guyton’s method. One patient had grade I objective intorsion, 2 had grade II, 6 had grade III, and 1 had grade IV objective intorsion.

Primary position horizontal alignment (up to ±8 PD) was achieved in 9 patients. Primary position vertical alignment (up to ±8 PD) was achieved in all 10 patients.

Only 2 of 10 patients had A-pattern of 10 PD, in the remaining 8 patients it was eliminated (P<0.05). Postoperatively, 5 patients had no objective intorsion and 5 had grade I intorsion, and none of the patients had hypertropia or paradoxical eye movements.

Conclusion: Superior oblique transposition by Scott’s procedure along with conventional surgery on horizontal recti in third nerve palsy results in better horizontal and vertical alignment, and improves A-pattern and intorsion, thus leading to better binocular interaction.     

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.     

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.     

Multimodal Imaging in Sympathetic Ophthalmia

Purpose: To show the current status of multimodal imaging and its role in supporting an early diagnosis of sympathetic ophthalmia.

Methods: The diagnosis is mainly clinical supported with ancillary investigations; mainly fluorescein angiography and others, including indocyanine angiography optical coherence tomography (OCT), OCT enhanced depth imaging, autofluorescence imaging, and ultrasonography.

Results: Various imaging modalities such as OCT, autofluorescence imaging and angiography are critical in the diagnosis and management of sympathetic ophthalmia. The clinician must make adequate use of such ancillary investigations in the management of the patients.

Conclusions: Sympathetic ophthalmia is a rare, bilateral inflammation of the uveal tract following penetrating trauma or surgery in one eye. The intraocular inflammation requires a prompt diagnosis so that the treatment can be initiated as early as possible.     

Repeat Conjunctival Biopsy after Immunomodulatory Therapy for Ocular Mucous Membrane Pemphigoid

Purpose: To evaluate whether conjunctival biopsy findings in patients with ocular mucous membrane pemphigoid (MMP) persist as positive or revert to negative following treatment with immunomodulatory therapy (IMT).

Methods: Patients with biopsy-proven MMP were treated with IMT for at least 2 years before undergoing repeat conjunctival biopsy for immunofluorescence microscopy. Their records were reviewed and findings evaluated to ascertain which patients’ biopsies showed antibody deposition on the conjunctival basement membrane.

Results: Following 2 years of IMT, conjunctival biopsies showed persistent antibody deposition in two patients, and were negative in four patients.

Conclusions: Conjunctival biopsies in patients with ocular MMP may show reversion to inactive disease following IMT. Post-treatment biopsy might be clinically useful as a means of evaluating the efficacy of therapy in this chronic disease.     

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.     

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.     

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.     

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene

Background: Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms.

Materials and methods: We report a patient with retinitis pigmentosa (RP) with ICS due to a mutation in the male germ cell-associated kinase (MAK) gene.

Results: A 41-year-old Ashkenazi Jewish male was referred for abnormal visual field revealed by regular optometric examination. His visual acuity was 20/20 in each eye. Dilated examination revealed typical finding of RP. Optical coherence tomography showed cystoid changes in each fovea. Photoreceptors were also degenerated. Intravenous fluorescein angiography showed no leakage. Genetic testing identified a homozygous mutation in the MAK gene: a 353-bp Alu insertion (K429insAlu).

Conclusions: Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization. Mak is required for the survival of photoreceptors in mice. ICS has been reported in other ciliopathies. We report the first case of ICS due to mutation in MAK.     

Utility of Leflunomide in the Treatment of Drug Resistant Cytomegalovirus Retinitis

Purpose: To describe leflunomide use in the treatment of drug resistant cytomegalovirus retinitis. Leflunomide has been shown to be effective in the treatment of systemic CMV viremia.

Methods: Retrospective chart review of patients with CMV retinitis treated with leflunomide.

Results: Two HIV-negative organ transplant recipients with UL 97 mutation resistant-genotype CMV were identified. Patient 1 developed CMV viremia post-kidney transplant and subsequently bilateral CMV retinitis. Retinitis progressed, despite intravitreal injection of ganciclovir and foscarnet, and IV foscarnet and oral valganciclovir. Retinitis control was achieved with the addition of oral leflunomide. Disease remained inactive for 22 months. Patient 2 developed CMV retinitis after lung transplant. Disease progressed despite intravitreal foscarnet injections and oral valganciclovir. Control of retinitis was achieved with addition of oral leflunomide, allowing cessation of intravitreal therapy. Disease remained inactive until his death.

Conclusions: Leflunomide may be considered as a treatment option for resistant CMV retinitis.     

Localization of Human Copper Transporter 1 in the Eye and its Role in Eales Disease

Purpose: Copper (Cu) is an essential trace element; however excess is toxic due to the pro-oxidant activity. Increased intracellular Cu levels in vitreous and monocyte were reported in Eales disease (ED) previously. Copper transporter1 (CTR1) maintains copper homeostasis and hence, we studied the presence of CTR1 in ocular tissues and its role in ED.

Methods: Real-time PCR, ELISA and Western blot experiments were performed in donor eyeballs tissues and PBMCs isolated from controls and ED. Immunostaining were performed for CTR1 from donor eyeballs and one ED case.

Results: CTR1 protein was expressed in all ocular tissues. PBMCs showed a three-fold increase in CTR1 protein in ED when compared with controls. Retinal sections from ED patients also revealed increased CTR1 protein expression in retinal tissues, compared with control.

Conclusions: CTR1 was significantly increased in ED when compared with controls, indicating its considerable role in the ED pathology.     

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.     

In Vivo Confocal Microscopic Characteristics of Crystalline Keratopathy in Patients with Sclerokeratitis

Purpose: To report in vivo confocal features in a clinical case series of patients with sclerokeratitis presenting as crystalline keratopathy.

Methods: Five cases of crystalline keratopathy following sclerokeratitis are described. Confocal microscopic images of the cornea were captured in all cases to confirm the diagnosis by evaluating the morphology of the crystals.

Results: Unilateral and non-progressive peripheral crystalline keratopathy manifested after previous episodes of sclerokeratitis in the involved eye. Confocal microscopy revealed numerous, discrete, hyperreflective, needle-like, shiny crystals in the anterior and posterior stromal layers of the cornea. These deposits were oriented randomly and showed occasional confluence. An extensive ophthalmic and systemic evaluation did not reveal any other contributory factors.

Conclusion: Crystalline keratopathy, probably resulting from an immune-mediated response, is a possible manifestation of sclerokeratitis. This should be considered during long-term follow-up of such patients and differentiated from infectious crystalline keratopathy.     

Atypical VZV Retinitis in a Patient with Good Syndrome

Purpose: To describe atypical varicella zoster virus (VZV) retinitis in a patient with Good syndrome.

Methods: A 63-year-old patient with Good syndrome presented with bilateral necrotizing retinitis starting from the posterior pole. He had a history of thymoma status post thymectomy 4 years previously, left-sided sinusitis, and recent pulmonary aspergillosis. Qualitative PCR was performed on aqueous fluid.

Results: Immunological investigations revealed reduced levels of CD4⁺ T cells and immunoglobulins. Qualitative PCR was positive for VZV and negative for cytomegalovirus, herpes simplex virus (HSV)-1, and HSV-2. The patient was treated with oral valacyclovir and three courses of immunoglobulin supplementation. The atypical retinitis showed improvement after therapy.

Conclusion: Good syndrome should be considered in a patient with opportunistic infections and history of thymoma in the absence of human immunodeficiency virus. Atypical retinitis can occur in patients with Good syndrome and quantitative PCR is important for accurate diagnosis.     

Intravitreal Administration of Ranibizumab and Bevacizumab for Choroidal Neovascularization Secondary to Ocular Toxocariasis: A Case Report

Purpose: To report a case of a choroidal neovascularization (CNV) secondary to ocular toxocariasis treated with intravitreal injections of anti-vascular endothelial growth factor (VEGF) agents.

Methods: A 66-year-old woman presented with decreased vision (20/40) and metamorphopsia in the right eye. Fundus examination revealed inferotemporal retinal whitish lesion and subretinal hemorrhage in the right eye.

Results: She was diagnosed with ocular toxocariasis based on the clinical features and positive serological anti-toxocara antibody test result. Ophthalmic examination revealed classic CNV formation adjacent to a retinal granuloma. She was treated with intravitreal ranibizumab and bevacizumab injections combined with oral albendazole. Her vision decreased to 20/100 following CNV recurrence. However, after additional bevacizumab treatment, the CNV became inactive and her vision recovered to 20/40.

Conclusions: CNV can be combined with retinal granuloma due to ocular toxocariasis. Repeated intravitreal injections of anti-VEGF agents can be efficacious for regressing toxocariasis-associated CNV and improving vision.     

Osseous Metaplasia (Cataracta Ossea) of Lens Remnants in Chronic Uveitis—A Clinicopathologic Report

Purpose: To describe clinically and pathologically the rare occurrence of calcification and osseous metaplasia in lens remnants in both eyes of a patient with pseudophakic chronic uveitis.

Methods: We performed 25-gauge pars plana vitrectomy, removal of dislocated intraocular lens (IOL), and secondary IOL fixation in the left eye. A similar procedure was performed in the right eye with 27-gauge pars plana vitrectomy.

Results: The postoperative visual acuities were 20/30 OD and 20/125 OS. Hematoxylin and eosin staining demonstrated an abundance of calcified tissue and rare osteoclasts in lacunae, compatible with osseous metaplasia (cataracta ossea).

Conclusion: To our knowledge this is the first clinicopathologic report demonstrating cellular metaplasia that resulted in osseous transformation of the cortical lens remnants into bone in both eyes of a psuedophakic patient with chronic granulomatous pan uveitis of unknown etiology. The surgical technique described in the supplemental videos demonstrates an effective way of managing this complication.     

Diagnosed cataracts in patients with cystic fibrosis in a United States administrative database

Background: We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP).

Methods: Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The prevalence and incidence of diagnosed cataract (primary outcome) for both cohorts were calculated, as well as the incidence rate ratios (IRRs).

Results: The prevalence of diagnosed cataracts among patients with CF alive and enrolled in the health plan on August 31, 2012 was 4.8% versus 2.8% in the GP. The incidence in the CF cohort was higher than in the GP and increased with age in both cohorts. The adjusted IRR comparing the CF and GP cohorts was 1.5 (95% CI: 1.2–1.8).

Conclusions: The study suggests that the risk of developing cataract was higher among patients with CF than among the GP.     

The Prevalence of Dry Eye and Sjögren Syndrome in Patients with Migraine

Purpose: To evaluate the presence of dry eye and primary Sjögren syndrome (SS) in patients with migraine.

Methods: In total, 46 eyes of 46 patients with migraine (group 1) and 50 eyes of 50 healthy subjects (group 2) were included in this study. Detailed ophthalmologic, neurologic and rheumatologic examination were performed on all participants. Ocular surface disease index questionnaire, tear function tests, visual analog scale for pain, serologic analysis were also performed.

Results: Dry eye symptoms and findings were significantly higher and more severe in group 1 when compared with group 2. Primary SS was not found in any of the participants. The migraine lifetime duration was negatively correlated with the tear function tests while it was positively correlated with the ocular surface disease index scores.

Conclusions: Dry eye symptoms and findings are higher in migraine patients when compared with the healthy subjects without the presence of Sjögren syndrome.     

Clinical Features of Systemic Metastatic Retinal Lymphoma in Japanese Patients

Purpose: Systemic metastatic retinal lymphoma (SMRL) originates in systemic organs. It has been reported to exhibit clinical features similar to those of primary vitreoretinal lymphoma (PVRL). We report six cases of SMRL in a single-center survey in Japan.

Methods: The clinical and pathologic features in SMRL at the Kyushu University Hospital were retrospectively studied.

Results: The mean patient age at the onset of ocular involvement was 75.3 years. Four patients had brain involvement. The primary sites were: breast (2); chest (1); testis (1); intestinal tract (1); and nasal sinus (1). In all patients, the cytology of vitreous samples indicated diffuse large B-cell lymphoma (DLBCL).

Conclusions: DLBCL is the most common subtype in our study. The prevalence of CNS involvement in patients with SMRL is similar to that with PVRL. The testis and breast may be common sites of origin for SMRL.