Paola Carrai

RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex.

Purpose: To propose a classification of retinal astrocytic hamartoma based on spectral domain optical coherence tomography and correlate each class with systemic manifestations of tuberous sclerosis complex. Methods: Retrospective chart review conducted at four international referral medical retina centers. There were 43 consecutive patients with an established diagnosis of tuberous sclerosis complex based on presence of at least 2 major or 1 major and 2 minor features of the diagnostic criteria. Clinical and spectral domain optical coherence tomography features regarding retinal astrocytic hamartoma were documented. Results: The mean patient age at presentation was 16.2 years. The retinal astrocytic hamartoma was classified as Type I (n = 41), Type II (n = 25), Type III (n = 20), or Type IV (n = 12). Patients with Type II showed greater number of cutaneous fibrous plaques (odds ratio = 64.8; 92% confidence interval: 64.2–65; P < 0.001); those with Type III displayed higher incidence of subependymal giant-cell astrocytomas (odds ratio = 43.2; 95% confidence interval: 43.0–43.3; P < 0.001); and those with Type IV showed higher incidence of pulmonary lymphangiomyomatosis (odds ratio = 126; 95% confidence interval: 122–128; P < 0.001). Conclusion: Retinal astrocytic hamartoma can be classified into four morphologic groups, based on spectral domain optical coherence tomography. There are important systemic tuberous sclerosis complex correlations with each class.

Outcomes of treatment of choroidal neovascularization associated with central serous chorioretinopathy with intravitreal antiangiogenic agents

Purpose: To report clinical characteristics and treatment outcomes from the largest case series of choroidal neovascularization secondary to central serous chorioretinopathy. Methods: Retrospective analysis of 46 eyes of 43 consecutive subjects. Collected data included demographic details, history of presenting illness, clinical examination details including visual acuity at presentation and follow-up with imaging and treatment details. Main outcome measures were the proportion of eyes that had improved (3 or more lines), stable (within ±1 line), or decreased (3 or more lines) vision at the final visit as compared with baseline examination. Secondary efficacy outcomes included change in visual acuity at final follow-up, number of injections, treatment-free interval, and adverse events. Results: Mean age was 57.56 years (range 29–79 years). Mean follow-up duration was 38.3 months ± 58.9 months. More than 3 lines of improvement in 12 eyes (26%), vision was stable (within ±1 line) in 19 eyes (41.3%), and >3 lines of loss was noted in 6 eyes (13%). Mean change in the number of lines was 1.16 ± 3.74. Mean number of anti-vascular endothelial growth factor injections during the follow-up was 4.45 ± 4.1. The longest treatment-free interval was 8.9 months ± 7.5 months. There were no adverse events noted. Conclusion: Anti-vascular endothelial growth factor therapy as a primary therapy for choroidal neovascularization secondary to central serous chorioretinopathy is safe and efficacious, without any serious adverse events.

WIDE-FIELD SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY.

Purpose: To describe wide-field spectral domain optical coherence tomography morphologic relationships of the vitreous, retina, and choroid in healthy and pathologic eyes. Methods: Standardized horizontal, vertical, and two oblique (supertemporal to inferonasal and supranasal to inferotemporal) spectral domain optical coherence tomography sections were collected for each patient. For extramacular imaging, images were obtained from 8 locations: 1) nasal to the optic disk, 2) extreme nasal periphery, 3) superior to the superotemporal vascular arcade, 4) extreme superior periphery, 5) inferior to the inferotemporal vascular arcade, 6) extreme inferior periphery, 7) temporal to the macula, and 8) extreme temporal periphery. Wide-angle montage images of optical coherence tomography from equator-to-equator were composed with a montaging software. Results: Wide-field spectral domain optical coherence tomography scans were obtained in 10 healthy subjects, in 7 patients with central serous chorioretinopathy, in 5 patients with wet age-related macular degenerations, in 5 patients with dry age-related macular degenerations, in 4 patients with retinitis pigmentosa, and in 1 patient with acute exudative polymorphous vitelliform maculopathy. Conclusion: The novel approach of montaging spectral domain optical coherence tomography images to examine relationships between the choroid, retina, and associated structures adjacent to and outside of the macula may have a number of relevant applications in the study of vitreoretinal interface, paramacular and macular pathologic features.

ANTIANGIOGENICS IN CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LASER IN CENTRAL SEROUS CHORIORETINOPATHY.

Background/Purpose: To report characteristics and treatment outcome of choroidal neovascularization (CNV) secondary to laser photocoagulation and photodynamic therapy (PDT) in central serous chorioretinopathy. Methods: Retrospective analysis of 12 eyes of 12 patients, who were diagnosed to have CNV secondary to laser photocoagulation or PDT for central serous chorioretinopathy. Collected data included demographic details, history of presenting illness, clinical examination details including visual acuity at presentation, and follow-up with imaging and treatment details. Main outcome measures were resolution of CNV activity at the last follow-up. Secondary outcomes included change in visual acuity at final follow-up from baseline, number of injections, treatment-free interval, and adverse events. Results: This study included 12 eyes of CNV secondary to laser photocoagulation (8 eyes) and PDT (4 eyes). Mean age of study subjects was 47.6 ± 15.4 years (range 33–82) with 8 men and 4 women. Mean interval between laser photocoagulation/PDT and diagnosis of CNV was 23.9 ± 54.5 months. All subjects had unilateral CNV with classic CNV on fluorescein angiography. Eight eyes had extrafoveal CNV, and four eyes had juxtafoveal CNV. Baseline best-corrected visual acuity was 0.56 ± 0.51 (Snellen equivalent 20/60) logMAR, and final best-corrected visual acuity was 0.53 ± 0.51 (Snellen equivalent 20/60) logMAR with no significant difference (P = 0.84). All four eyes that presented with the CNV secondary to PDT group required additional PDT treatment because of poor response to antivascular endothelial growth factor therapy. At the last follow-up, only one patient in the laser group had active CNV; the remaining patients of both groups had scarred CNV. Mean follow-up duration was 22.4 ± 23.1 months. Mean number of injections was 3.16 ± 2.62. Longest treatment-free interval was 8.29 ± 11.4 months. Conclusion: Antivascular endothelial growth factor therapy appears to be safe and efficacious in CNVs secondary to laser photocoagulation and PDT. Choroidal neovascularizations secondary to PDT appear to be more resistant to antivascular endothelial growth factor therapy than those because of laser photocoagulation and required additional PDT.

Genetic of uveitis

Immune-mediated uveitis may be associated with a systemic disease or may be localized to the eye. T-cell-dependent immunological events are increasingly being regarded as extremely important in the pathogenesis of uveitis. Several studies have also shown that macrophages are major effectors of tissue damage in uveitis. Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. This review attempts to present the current state of knowledge from in vitro and in vivo research on the role of genetics in the development and clinical course of uveitis. A review of the literature in the PubMed, MEDLINE, and Cochrane databases was conducted to identify clinical trials, comparative studies, case series, and case reports describing host genetic factors as well as immune imbalance which contribute to the development of uveitis. The search was limited to primary reports published in English with human subjects from 1990 to the present, yielding 3590 manuscripts. In addition, referenced articles from the initial searches were hand searched to identify additional relevant reports. After title and abstract selection, duplicate elimination, and manual search, 55 papers were selected for analysis and reviewed by the authors for inclusion in this review. Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system. When considering the genetics of uveitis, common threads can be identified. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have a uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the burgeoning understanding of the human genome promises to result in new insight into the pathogenesis of uveitis.

A case of acute exudative polymorphous vitelliform maculopathy: Follow-up and wide-field spectral-domain optical coherence tomography

Purpose To present a case of an HIV-positive patient with acute exudative polymorphous vitelliform maculopathy (AEPVM) and evaluate the presence of specific spectral-domain optical coherence tomography (SD-OCT) findings. Methods Case report. Results We reviewed the AEPVM cases reported in the literature and compared those to our patient to determine if there is a correspondence between the etiology that leads to the onset of AEPVM and clinical and SD-OCT findings. Conclusions Acute exudative polymorphous vitelliform maculopathy is a disease that involves the outer retinal layers with lipofuscin deposits and serous detachment of the neuroepithelium with or without intraretinal cysts. Not much is known about the etiology and pathogenesis, and not many cases have been described. A review of the few clinical cases reported in the literature does not show a specific correspondence between etiology and SD-OCT findings.

Pediatric Masquerade Uveitis

Several noninfectious and neoplastic processes that are not autoimmune diseases may commonly masquerade as uveitis, leading to delays in appropriate treatment. Careful history and examination in concert with appropriate ancillary investigations and histopathologic evaluation of tissue specimens are required in order to make the correct diagnosis. This chapter evaluates neoplastic and nonneoplastic conditions which may be considered masquerades. Diagnostic strategies, therapy, and prognosis are reviewed in detail.

Uveitis Associated with Juvenile Idiopathic Arthritis

Juvenile idiopathic arthritis (JIA) is the most common systemic disease causing uveitis in childhood, with a prevalence of 10 per 100,000 persons. JIA often takes a severe inflammatory course, and its complications often endanger vision. Regular ophthalmologic examinations should be performed starting as soon as JIA is diagnosed. Of the patients who develop uveitis associated with JIA, 75–80 % of patients are females and antinuclear antibodies are found in 70–90 %. The risk for vision loss is higher if uveitis begins in the preschool years. Severely affected patients should be treated in tertiary centers by uveitis specialists to optimize their long-term outcome. Multidisciplinary, individualized treatment is needed because of the chronic course of active inflammation and the ensuing high risk of complications that can endanger vision. Topical corticosteroids should be given as the initial treatment. Systemic immunosuppression is needed if inflammation persists despite topical corticosteroids, if new complications arise, or if the topical steroids have to be given in excessively high doses or have unacceptable side effects. If the therapeutic effect remains inadequate, conventional and biological immune modulators can be given in a stepwise fashion until therapeutic response is attained. Treatment lowers the risk of uveitis and its complications and thereby improves the prognosis for good visual function.

Two masquerade presentations of retinoblastoma

Abstract Masquerade syndromes are disorders occurring with intraocular inflammation misdiagnosed as uveitis. The underlying causes may be benign or malignant conditions, and one of the most important diagnoses to take into consideration in children is retinoblastoma. We present two cases with uncertain early misdiagnosis whose definite diagnosis eventually was retinoblastoma.