Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Purpose: To report long-term results of photodynamic therapy (PDT) in young patients affected by Best vitelliform macular dystrophy (VMD) complicated by choroidal neovascularization (CNV).

Methods: We evaluated a group of 30 VMD patients with confirmed mutations in the BEST1 gene. Five of these patients had been diagnosed with CNV when younger than 15 years of age and three of them were treated by PDT. After the treatment they were followed for an average period of 77 months (range 62–99).

Results: In all the treated eyes visual acuity was stable during the first year of follow-up and then slowly improved even some years after the treatment. The improvement in visual acuity was associated with the development of fibrous tissue in the macula.

Conclusions: PDT was a safe procedure in our series of pediatric patients with VMD complicated by CNV. It was followed by a CNV regression and a consequent improvement in visual acuity which continued to progress even several years after the treatment.     

Choroidal Neovascularization Associated with Multiple Evanescent White Dot Syndrome Treated with Intravitreal Ranibizumab

Purpose: To describe the clinical outcomes of intravitreal ranibizumab treatment for subfoveal choroidal neovascularization (CNV) associated with multiple evanescent white dot syndrome (MEWDS).

Methods: This is a prospective, interventional, case series. All recruited patients underwent a baseline intravitreal ranibizumab injection and were monitored monthly over a 12-month follow-up, following a pro-re-nata regimen.

Results: Four patients (four eyes) were included in the study. Mean best-corrected visual acuity (BCVA) changed from 0.60 ± 0.20 at baseline to 0.07 ± 0.05 logMAR at 12-month examination. Baseline central macular thickness reduced from 330 ± 32 µm to the final value of 228 ± 14 µm at the 1-year follow-up. Overall, a mean number of 2.2 ranibizumab injections were administered at the end of 12 months.

Conclusions: Intravitreal ranibizumab treatment represents a valuable therapeutic option for the management of CNV associated with MEWDS.     

Posterior Scleritis with Choroidal Effusion Secondary to Herpes Zoster Ophthalmicus

Purpose: To describe a case of posterior scleritis with serous choroidal detachment that occurred as an acute complication of herpes zoster ophthalmicus (HZO).

Methods: Retrospective case report.

Results: A 75-year-old female presented with 3 days of painful, decreased vision in her left eye 1 week after being diagnosed with HZO. She had unilateral crusted vesicular lesions in the V1 dermatomal distribution and corneal pseudodendrites. Funduscopic examination demonstrated a large choroidal detachment in her left eye. B-scan ultrasonography revealed unilaterally thickened sclera consistent with posterior scleritis. She was treated with oral prednisone and a 2-week course of intravenous acyclovir. Two weeks after the initiation of treatment, her vision had improved and she demonstrated complete resolution of her pseudodendrites, posterior scleritis, and choroidal detachment.

Conclusions: Prompt recognition and treatment of this unique combination of clinical manifestations of HZO resulted in significant improvement in vision and resolution of the scleritis and choroidal detachment.     

Retinal pigment epithelium–photoreceptor layer alterations in a patient with Sturge–Weber syndrome with diffuse choroidal hemangioma

Purpose: To describe an 8-year-old girl with diagnosis of Sturge–Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped “microdrusen-like” alterations of the retina in the right eye.

Patient and methods: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out.

Results: Microdrusen-like retinal alterations observed with fundus ophthalmoscopy appeared as multiple hyperreflective dots surrounded by a hyporeflective ring on NIR. EDI SD-OCT showed increased choroidal thickness exceeding 1000 μm. B-scan cross-sectional examination on the hyperreflective dots revealed focal alterations of the retinal pigment epithelial (RPE)–photoreceptor layer.

Conclusions: The increase of the choroidal thickness due to the diffuse choroidal hemangioma caused alterations of the RPE–photoreceptor layer similar to reticular pseudodrusen or pachychoroid pigment epitheliopathy.     

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.     

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.     

Outer Retinal and Choroidal Evaluation in Multiple Evanescent White Dot Syndrome (MEWDS): An Enhanced Depth Imaging Optical Coherence Tomography Study

Purpose: To perform an analysis of optical coherence tomography (OCT) abnormalities in patients with MEWDS, during the acute and recovery stages, using enhanced depth imaging-OCT (EDI-OCT).

Methods: A retrospective case series of five patients with MEWDS was included. EDI-OCT imaging was evaluated to detect retinal and choroidal features.

Results: In the acute phase, focal impairment of the ellipsoid zone and external limiting membrane, hyperreflective dots in the inner choroid, and full-thickness increase of the choroidal profile were observed in the affected eye; disappearance of these findings and restoration of the choroidal thickness (p = 0.046) was appreciated in the recovery phase. No OCT abnormalities were assessed in the unaffected eye.

Conclusions: EDI-OCT revealed transient outer retinal layer changes and inner choroidal hyperreflective dots. A transient increased thickness of the whole choroid was also identified. This might confirm a short-lasting inflammatory involvement of the whole choroidal tissue in the active phase of MEWDS.     

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.     

Trabeculectomy in eyes with unsuspected retinoblastoma

Background: To report the management and clinical outcome of children with unsuspected retinoblastoma who underwent trabeculectomy surgery.

Methods: Three children who presented to us after trabeculectomy surgery were diagnosed with retinoblastoma. They were treated with enucleation of the affected eye. Histopathology of the enucleated eyeball showed tumor infiltration into the iris and the ciliary body in two cases, and massive choroidal invasion in the third case. Six cycles of adjuvant systemic chemotherapy with carboplatin, vincristine and etoposide were given.

Results: The follow-up ranged from 18–48 months. At last follow-up, all children were alive and well, with no local recurrence or systemic metastasis.

Conclusions: The management of retinoblastoma with operated trabeculectomy is challenging due to risk of tumor dissemination. Timely intervention can result in good clinical outcome. Nevertheless, a meticulous posterior segment evaluation to rule out retinoblastoma in children presenting with buphthalmos or secondary glaucoma should always be considered.     

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.     

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.     

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.     

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance

Introduction: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance.

Methods: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team. Eye examinations, fundus photography, and optical coherence tomography (OCT) were performed. Genetic testing was obtained on examined patients and available relatives.

Results: The proband demonstrated counting fingers vision and white flecks in the retinal periphery, with macular subretinal fluid (SRF), loss of outer photoreceptor segments, and epiretinal membrane (ERM) on OCT. Two grandchildren demonstrated decreased vision, multifocal yellow subretinal deposits, and SRF on OCT. Two grandchildren examined elsewhere were reported to be similarly affected. A son’s examination was normal except for extra-macular scars (from prior toxoplasmosis) and ERM. Genetic history revealed consanguinity and testing showed homozygosity for BEST1 mutations in the proband and two grandchildren c.473G>A/c.473G>A (R218H /R218H) and heterozygosity in two unaffected sons and two unaffected daughters-in-law c.473G>A/WT (p.R218H/WT).

Discussion: We present a consanguineous family of five affected individuals with ARB and four confirmed carriers. Their pedigree was consistent with dominant inheritance and incomplete penetrance. Genetic testing clarified the diagnosis and mode of inheritance. We describe the genetic findings, phenotypic variability, and recessive inheritance of an often dominantly inherited mutation as notable elements in their case.     

Spectrum of Choroidal Involvement in Presumed Ocular Tuberculosis: Report from a Population with Low Endemic Setting for Tuberculosis

Objective: To describe the clinical spectrum and outcome of patients with presumed tubercular uveitis and choroidal involvement.

Methods: A retrospective case series nested in a cohort study was enrolled at a tertiary referral eye care center in the UK. Failure was defined as recurrence of lesion within 6 months of completion of antitubercular therapy (ATT) or corticosteroid therapy.

Results: Seventy-seven patients with presumed ocular tuberculosis and choroidal involvement were included in the study. Mean age was 45.5 ± 15.7 years, 44 (57.1%) patients were male, and 51 (66.2%) presented with bilateral disease. Choroidal granuloma was the most frequent clinical presentation (n = 27, 35.07%), followed by multifocal choroiditis (n = 24, 31.17%) and serpiginous-like choroiditis (n = 18, 23.38%). Quantiferon Gold in Tube Test (QFT) was positive in 64 (83.11%) patients. Fifty (64.94%) patients received ATT.

Conclusions: Choroidal involvement in presumed ocular tuberculosis can present with a variable spectrum. Treatment failure rates were equivalent between ATT and non-ATT treated groups.     

Clinical Characteristics of Inflammatory Choroidal Neovascularization in a Chinese Population

Purpose: To describe demographic features and clinical and imaging characteristics of inflammatory choroidal neovascularization (CNV) in a Chinese population.

Methods: A retrospective case review of patients with CNV secondary to uveitis from 2002 to 2013.

Results: A total of 125 patients (150 eyes, 166 CNVs; bifocal CNVs in 16 eyes), 64% of whom were women, were reviewed. The mean age was 35.86 years. The proportions of patients with punctate inner choroidopathy (PIC), multifocal choroiditis (MFC), and Vogt-Koyanagi-Harada (VKH) were 50.4, 22.4, and 8%. All of the cases were classic CNV in fluorocein angiography and type 2 CNV in OCT. The proportion of subfoveal lesions in active CNV (30.09%) was less than that in inactive CNV (60.38%).

Conclusions: PIC, MFC, and VKH were the three primary specific types of uveitis with inflammatory CNV in this study. Inflammatory CNV tended to break though the retinal pigment epithelium and beneath the neurosensory retina. Moreover, inflammatory CNV was usually nonsubfoveal when it occurred.     

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients

Background: Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision.

Objective: To evaluate the nature and age of onset of ophthalmologic manifestations in pseudoxanthoma elasticum.

Patients and Methods: Forty consecutive patients affected with pseudoxanthoma elasticum underwent measurements of their refractive error and visual acuity, together with slit-lamp examination.

Results: The mean age of the patients (8 M, 32 F) was 43.35 years. Fifty-seven eyes (33 patients, mean age: 40.75 years) had a BCVA >20/50 whereas 23 eyes in 16 patients (mean age: 53.31 years) had ≤20/50. Seven patients (17.50%), all but one over 52 years old, were visually disabled. BCVA ≤20/50 in at least one eye was observed in 73.33% of patients of 52 years old or older and in 20.00% of patients younger than 52, respectively. Angioid streaks were observed in 75 eyes (93.75%) and extended toward the macula in 51 eyes from 29 patients. Macular involvement was observed for the first time at a mean age of 44.28 years. Neovascularization was observed in 28 eyes (17 patients; mean age: 51.70 years), all with poor BCVA.

Conclusion: Macular choroidal neovascularization is frequent in pseudoxanthoma elasticum, and accounts for the poor ophthalmologic natural history of the disease. Patients should be advised to self-monitor their visual acuity using the Amsler grid. The frequency of choroidal neovascularization appears age-dependent, suggesting that bi-yearly fundus examination is appropriate in young patients whereas patients older than 40 should be examined twice a year.     

Evaluation of Macular Ganglion Cell-inner Plexiform Layer and Choroid in Psoriasis Patients Using Enhanced Depth Imaging Spectral Domain Optical Coherence Tomography

Purpose: To evaluate changes in the thickness of the central macula, macular ganglion cell-inner plexiform layer (mGCIPL), and subfoveal choroid in patients with psoriasis using spectral domain optical coherence tomography (SD-OCT).

Methods: The measurements of macular, mGCIPL thicknesses and subfoveal choroidal thickness (SFCT) obtained by SD-OCT of psoriasis patients (n = 46). These measurements were compared with those of 50 healthy controls.

Results: The macular, mGCIPL, and choroidal thicknesses did not differ between the controls and psoriatic subjects (p>0.05). When the patients were divided into two distinct groups, only the SFCT was significantly thicker in the severe psoriasis group compared with the mild psoriasis group (p = 0.003).

Conclusions: These findings suggest that choroidal alterations are seen without macular changes in patients with psoriasis. Severe psoriasis appears to be related to increases in SFCT as a consequence of possible inflammatory cascades that are part of the disease’s pathogenesis.     

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.     

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.