Verteporfin photodynamic therapy for the treatment of choroidal haemangioma associated with Sturge-Weber syndrome.

PURPOSE: Choroidal haemangiomas associated with Sturge Weber syndrome most commonly affect the posterior pole and consequently result in amblyopia. Treatment is often challenging but usually unwarranted unless there is visual deterioration caused by exudative or neovascular complications. The main objective is to demonstrate the effectivity of photodynamic therapy in this context. DESIGN AND METHODS: Retrospective analysis of prospectively collected data regarding verteporfin photodynamic therapy (PDT) in the treatment of patients with choroidal haemangiomas associated with Sturge Weber syndrome. RESULTS: Six patients (4 male, 2 female) with a median age of 28 years (range, 23-67) had a mean tumour belly diameter of 12.2mm (range, 9-16.8). There was regression of the tumour in all cases, albeit after 3 treatments in a single case. The exudative retinal detachment resolved in 2 out of 3 patients. Visual outcome improved in 3 patients, remaining poor but stable in the other three, due to pre-existing amblyopia. CONCLUSIONS: PDT is an effective and safe treatment for patients with choroidal haemangioma associated with Sturge-Weber syndrome.

Vitreoretinal surgery for complications of choroidal tumor biopsy.

OBJECTIVE: To determine the outcomes of vitreoretinal surgery after choroidal tumor biopsy. DESIGN: Retrospective, single-center, consecutive case series. PARTICIPANTS: A total of 739 consecutive patients undergoing choroidal tumor biopsy. METHODS: All subjects who underwent transretinal or transscleral choroidal tumor biopsy for diagnostic or prognostic purposes between May 1993 and May 2013 were identified in our database. We then reviewed patients who subsequently required secondary vitreoretinal surgery for complications arising from such biopsies. MAIN OUTCOME MEASURES: Reason for vitreoretinal surgery, association with biopsy procedure, best-corrected visual acuity (BCVA; logarithm of the minimum angle of resolution [logMAR]), intraocular or extrascleral tumor dissemination, resolution of vitreous hemorrhage, reattachment of the retina with a single vitreoretinal procedure, number of additional vitrectomies undertaken, and number of enucleations. RESULTS: A total of 20 of 739 eyes (2.7%) underwent vitreoretinal surgery for complications arising from choroidal tumor biopsy. The tumors consisted of choroidal melanoma in all 20 eyes. The reasons for the secondary surgery included persistent vitreous hemorrhage in 1.9% (14/739), rhegmatogenous retinal detachment in 0.7% (5/739), and endophthalmitis in 0.14% (1/739). Median BCVA improved from 2.0 logMAR (mean, 1.92 logMAR; range, 0.8-2.7 logMAR) before vitrectomy to 0.72 logMAR (mean, 0.88 logMAR; range, -0.14 to 2.7 logMAR) after vitrectomy and 0.76 logMAR (mean, 1.14 logMAR; range, 0.1-3.0 logMAR) at the final visit (P < 0.0001, t test). Permanent resolution of vitreous hemorrhage was achieved in 6 of 14 patients, and reattachment of the retina was achieved in 2 of 5 patients after the first vitrectomy. A median of 1 (mean, 1.5; range, 1-3) additional vitrectomy was performed. Enucleation was necessary in 3 of 20 eyes (15%). There were no cases of intraocular invasion or extrascleral extension after vitrectomy. CONCLUSIONS: Vitrectomy for complications of choroidal tumor biopsy is rare. Such corrective surgery is complex and is best undertaken by specialized ocular oncologists or vitreoretinal surgeons with experience in managing this problem.

HSP-27 protein expression in uveal melanoma: correlation with predicted survival.

PURPOSE: Almost 40% of uveal melanomas (UM) are fatal, because of metastatic disease that usually involves the liver. Partial or complete deletion of chromosome 3 (i.e., monosomy 3) is a strong predictor of metastatic mortality; however, genetic analysis is not always possible. The aim of this study was to determine whether heat shock protein 27 (HSP-27) protein expression could reliably predict prognosis. METHODS: Immunohistochemical analysis of HSP-27 protein expression was performed on formalin-fixed, paraffin-embedded sections from 99 UM of known chromosome 3 status, as determined by multiplex ligation-dependent probe amplification. Slides were evaluated blind by three independent observers. The percentage of tumour cells staining for HSP-27 was categorized as: 0 (<1%); 1 (1-24%); 2 (25-49%); 3 (50-74%) or 4 (>74%). The staining intensity was categorized as: 0 (no staining); 1 (weak); 2 (moderate) and 3 (strong). These two categories were multiplied together to obtain the HSP-27 expression score. All data were processed in spss for statistical analyses. RESULTS: Heat shock protein 27 score was lower in monosomy 3 melanomas than in disomy 3 tumours (p<0.001; Mann-Whitney U-test). An 'accelerated failure time model' was used to generate predicted survival for all patients included in the study. Kaplan-Meier analysis indicated a significantly decreased predicted 8-year survival rate for patients with an HSP-27 Score≤6 (p=0.03; Log rank test). Predicting monosomy 3 was enhanced by considering the HSP-27 score together with basal tumour diameter, melanoma cytomorphology and mitotic rate. CONCLUSIONS: Low HSP-27 expression correlates with monosomy 3 in UM and with increased predicted mortality. When assessed together with other clinical and pathological variables, the HSP-27 score enhances estimation of survival probability.

Multiplex ligation-dependent probe amplification of conjunctival melanoma reveals common BRAF V600E gene mutation and gene copy number changes.

PURPOSE: To determine the occurrence of BRAF V600E gene mutations and copy number changes of all autosome arms and genes known to be frequently altered in tumorigenesis in primary and metastatic conjunctival melanomas (CoMs). METHODS: DNA (200 ng) was analyzed by three multiplex ligation-dependent probe amplification assays (P027 uveal melanoma, P036 human telomere, and P206 spitzoid melanoma). RESULTS: Eight of 16 primary tumor samples and 4 of 6 metastatic samples showed BRAF V600E gene mutations. CDKN1A and RUNX2 (both 6p21.2) were amplified in 11 and 16 of 21 primary CoMs, respectively. In metastatic CoMs, MLH1 (3p22.1) and TIMP2 (17q25.3) were frequently amplified, and MGMT (20q26.3) and ECHS1 (10q26.3) were frequently deleted. The BDH (3q), FLJ20265 (4p), OPRL1 (20q), and PAO (10q) genes, representing the telomeres of their respective chromosome arms in the P036 assay, were frequently amplified in metastatic CoMs. No statistically significant associations were identified between BRAF mutation or CDKN1A or RUNX2 amplification and sex, age, histologic cell type, or patient survival. CONCLUSIONS: No copy number changes were associated exclusively with metastatic CoMs. However, further investigation of the role of CDKN1A and RUNX2 in CoMs development and that of MLH1, TIMP2, MGMT, and ECHS1 in metastatic CoMs is warranted. Validation of the observed gene and chromosome arm copy number changes in a larger cohort of primary and metastatic CoMs is necessary to identify the patients at highest risk for CoMs metastasis.

The incidence of acute encephalitis syndrome in Western industrialised and tropical countries.

BACKGROUND: As part of efforts to control Japanese encephalitis (JE), the World Health Organization is producing a set of standards for JE surveillance, which require the identification of patients with acute encephalitis syndrome (AES). This review aims to provide information to determine what minimum annual incidence of AES should be reported to show that the surveillance programme is active. METHODS: A total of 12,436 articles were retrieved from 3 databases; these were screened by title search and duplicates removed to give 1,083 papers which were screened by abstract (or full paper if no abstract available) to give 87 papers. These 87 were reviewed and 25 papers identified which met the inclusion criteria. RESULTS: Case definitions and diagnostic criteria, aetiologies, study types and reliability varied among the studies reviewed. Amongst prospective studies reviewed from Western industrialised settings, the range of incidences of AES one can expect was 10.5-13.8 per 100,000 for children. For adults only, the minimum incidence from the most robust prospective study from a Western setting gave an incidence of 2.2 per 100,000. The incidence from the two prospective studies for all age groups was 6.34 and 7.4 per 100,000 from a tropical and a Western setting, respectively. However, both studies included arboviral encephalitis, which may have given higher rather than given higher] incidence levels. CONCLUSION: In the most robust, prospective studies conducted in Western industrialised countries, a minimum incidence of 10.5 per 100,000 AES cases was reported for children and 2.2 per 100,000 for adults. The minimum incidence for all ages was 6.34 per 100,000 from a tropical setting. On this basis, for ease of use in protocols and for future WHO surveillance standards, a minimum incidence of 10 per 100,000 AES cases is suggested as an appropriate target for studies of children alone and 2 per 100,000 for adults and 6 per 100,000 for all age groups.