Peripheral exudative hemorrhagic chorioretinopathy: a clinical, angiographic, and histologic study.

PURPOSE: To describe the clinical and angiographic characteristics of peripheral exudative hemorrhagic chorioretinopathy, an uncommon chorioretinal mass lesion, important for its differential diagnosis to choroidal melanoma, but only rarely described in the literature. DESIGN: Retrospective, institutional chart review. METHODS: Institutional chart review of 45 patients (56 eyes) diagnosed with peripheral exudative hemorrhagic chorioretinopathy to describe the clinical findings and those obtained by fluorescein angiography (FA) and indocyanine green angiography (ICGA), in addition to a review of the histologic findings of an enucleated eye. RESULTS: Peripheral exudative hemorrhagic chorioretinopathy typically was characterized by increased age of the patient (mean, 77 years; range, 60 to 91 years), female preponderance (69%), frequent pigment epithelium detachment, temporal equatorial location, and a highly hemorrhagic and exudative presentation, sometimes extending to the macula. Bilateral involvement (24%) was associated with multiples lesions in the same eye (P < .001) and with nasal extension (P < .001). A neovascular origin was suspected on FA, but was more evident on ICGA. Histologic examination of the enucleated eye did not reveal a neovascular network. CONCLUSIONS: Peripheral exudative hemorrhagic chorioretinopathy is a characteristic peripheral degenerative disorder, frequently with benign outcome, although it can be vision threatening because of hemorrhage or exudation. Clinical features are helpful for its diagnosis. FA and ICGA contribute valuable evidence to the hypothesis of a neovascular origin, but further histologic studies are needed to prove this hypothesis.

Prophylactic use of bevacizumab to avoid anterior segment neovascularization following proton therapy for uveal melanoma.

PURPOSE: To investigate whether the prophylactic use of bevacizumab reduces the rate of rubeosis after proton therapy for uveal melanoma and improves the possibility to treat ischemic, reapplicated retina with laser photocoagulation. DESIGN: Comparative retrospective case series. METHODS: Uveal melanoma patients with ischemic retinal detachment and treated with proton therapy were included in this institutional study. Twenty-four eyes received prophylactic intravitreal bevacizumab injections and were compared with a control group of 44 eyes without bevacizumab treatment. Bevacizumab injections were performed at the time of tantalum clip insertion and were repeated every 2 months during 6 months, and every 3 months thereafter. Ultra-widefield angiography allowed determination of the extent of retinal ischemia, which was treated with laser photocoagulation after retinal reapplication. Main outcome measures were the time to rubeosis, the time to retinal reattachment, and the time to laser photocoagulation of ischemic retina. RESULTS: Baseline characteristics were balanced between the groups, except for thicker tumors and larger retinal detachments in the bevacizumab group, potentially to the disadvantage of the study group. Nevertheless, bevacizumab prophylaxis significantly reduced the rate of iris rubeosis from 36% to 4% (log-rank test P = .02) and tended to shorten the time to retinal reapplication until laser photocoagulation of the nonperfusion areas could be performed. CONCLUSIONS: Prophylactic intravitreal bevacizumab in patients treated with proton therapy for uveal melanoma with ischemic retinal detachment prevented anterior segment neovascularization, until laser photocoagulation to the reapplied retina could be performed.

Tumors of the caruncle: a clinicopathologic correlation

PURPOSE: To determine the types and incidence of caruncular lesions and to investigate the correlation between clinical and histologic diagnosis. DESIGN: Retrospective, observational case series. METHODS: Records of patients with a lesion of the caruncle that was excised and submitted to our ocular pathology department between January 1979 and May 2005 were reviewed. Lesions were classified by histologic type and correlated with patient age, gender, and preoperative clinical diagnosis. RESULTS: A total of 195 consecutive caruncular lesions from 191 patients were identified. Twenty-four different types of lesions were identified; the most common were nevi (n = 92, 47%) and papillomas (n = 29, 15%). One keratoacanthoma was identified. One hundred eighty-three lesions (93.8%) were benign, six (3.1%) were premalignant, and five (2.6%) were malignant. Preoperative clinical diagnosis corresponded to postexcision histologic diagnosis in 73 cases (37.4%). Suspected malignancy was a common reason for excision (61 cases, 31.3%), but malignancy was confirmed in only three (4.9%) of 61 cases. Two of the five malignant lesions were clinically thought to be benign. CONCLUSIONS: We hereby report the first caruncular keratoacanthoma. The rarity and variety of caruncular lesions make clinical diagnosis difficult. Malignancy is clinically overestimated, and some malignant lesions can take a benign aspect, justifying close photographic follow-up of all lesions. Because caruncular malignant melanoma is associated with poor prognosis, pigmented lesions should be monitored carefully. In the absence of clear criteria for malignancy, any change in color, size, or vascularization of a caruncular lesion should hasten excision.

Visualization of aqueous shunt position and patency using anterior segment optical coherence tomography.

PURPOSE: To describe the use of anterior segment optical coherence tomography (AS-OCT) to clarify the position and patency of aqueous shunt devices in the anterior chamber of eyes where corneal edema or tube position does not permit a satisfactory view. DESIGN: Noncomparative observational case series. METHODS: Four cases are reported in which aqueous shunt malposition or obstruction was suspected but the shunt could not be seen on clinical examination. The patients underwent AS-OCT to identify the position and patency of the shunt tip. RESULTS: In each case, AS-OCT provided data regarding tube position and/or patency that could not be obtained by slit-lamp examination or by gonioscopy that influenced management. CONCLUSIONS: AS-OCT can be used to visualize anterior chamber tubes in the presence of corneal edema that precludes an adequate view or in cases where the tube is retracted into the cornea. In such cases, AS-OCT is useful in identifying shunt patency and position, which helps guide clinical decision making.

Franceschetti hereditary recurrent corneal erosion.

PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy. DESIGN: Observational case series. METHODS: Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members. RESULTS: All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult patients developed bilateral diffuse subepithelial opacifications in the central and paracentral cornea. The remaining 4 affected individuals had clear corneas in the pain-free stage of the disorder. Histologic and immunohistochemical examination of the peripheral cornea in a single patient showed a subepithelial, avascular pannus. There was negative staining with Congo red. DNA analysis excluded mutations in the transforming growth factor beta-induced (TGFBI) gene and in the tumor-associated calcium signal transducer 2 (TACSTD2) gene. CONCLUSION: We have extended the pedigree of Franceschetti corneal dystrophy and elaborated its natural history on the basis of clinical examinations. A distinctive feature is the appearance of subepithelial opacities in adult life, accompanied by a decreased frequency of recurrent erosion attacks. Its clinical features appear to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported in the literature.

Peripheral exudative hemorrhagic chorioretinopathy: polypoidal choroidal vasculopathy and hemodynamic modifications.

PURPOSE: To investigate choroidal vascular abnormalities in peripheral exudative hemorrhagic chorioretinopathy, using dynamic ultrawide-field fluorescein angiography (FA) and indocyanine green angiography (ICGA).¦DESIGN: Prospective observational case series.¦METHODS: This institutional study comprised a consecutive series of 40 patients (48 eyes) with peripheral exudative hemorrhagic chorioretinopathy. Choroidal vascular abnormalities were assessed with dynamic ultrawide-field (150-degree) FA and ICGA, using the Staurenghi 230 SLO Retina Lens and the Heidelberg scanning laser ophthalmoscope. The main outcome measures were morphologic descriptions of structural vascular abnormalities and choroidal hemodynamics (comparison with 30 normal eyes).¦RESULTS: The peripheral mass lesions were highly exudative and hemorrhagic, and usually associated with a pigment epithelium detachment. FA revealed nonspecific alterations corresponding to the visible fundoscopic changes (window defects, blockage, staining), but no neovascular membrane. However, despite frequent masking, ICGA showed hyperfluorescent polyp-like structures in the choroid of the lesion area in 33 eyes (69%) and an abnormal choroidal vascular network in 24 eyes (50%). The abnormal choroidal vascular network filled in the arterial or early venous phase, while the polyp-like structures filled some seconds later. Optical coherence tomography revealed the typical dome-shaped elevation of the pigment epithelium over the vascular polyps. Peripheral choriocapillaris closure was observed as well as dilated shunting vessels.¦CONCLUSION: Peripheral exudative hemorrhagic chorioretinopathy shares many characteristics (polyp-like choroidal telangiectases, abnormal choroidal vascular networks, exudative and hemorrhagic presentation) with polypoidal choroidal vasculopathy. Clarification of the precise role of these abnormalities requires further studies.

En face optical coherence tomography of foveal microstructure in full-thickness macular hole: a model to study perifoveal müller cells.

PURPOSE: To characterize perifoveal intraretinal cavities observed around full-thickness macular holes (MH) using en face optical coherence tomography and to establish correlations with histology of human and primate maculae. DESIGN: Retrospective nonconsecutive observational case series. METHODS: Macular en face scans of 8 patients with MH were analyzed to quantify the areas of hyporeflective spaces, and were compared with macular flat mounts and sections from 1 normal human donor eye and 2 normal primate eyes (Macaca fascicularis). Immunohistochemistry was used to study the distribution of glutamine synthetase, expressed by Müller cells, and zonula occludens-1, a tight-junction protein. RESULTS: The mean area of hyporeflective spaces was lower in the inner nuclear layer (INL) than in the complex formed by the outer plexiform (OPL) and the Henle fiber layers (HFL): 5.0 × 10(-3) mm(2) vs 15.9 × 10(-3) mm(2), respectively (P < .0001, Kruskal-Wallis test). In the OPL and HFL, cavities were elongated with a stellate pattern, whereas in the INL they were rounded and formed vertical cylinders. Immunohistochemistry confirmed that Müller cells followed a radial distribution around the fovea in the frontal plane and a "Z-shaped" course in the axial plane, running obliquely in the OPL and HFL and vertically in the inner layers. In addition, zonula occludens-1 co-localized with Müller cells within the complex of OPL and HFL, indicating junctions in between Müller cells and cone axons. CONCLUSION: The dual profile of cavities around MHs correlates with Müller cell morphology and is consistent with the hypothesis of intra- or extracellular fluid accumulation along these cells.

Factors Influencing the Treatment Response of Pigment Epithelium Detachment in Age-Related Macular Degeneration.

PURPOSE: To study the effect of various baseline factors, particularly the type of drug (ranibizumab vs aflibercept), on the functional and anatomic response of treatment-naïve pigment epithelial detachment (PED) associated with neovascular age-related macular degeneration (neovascular AMD), after 3 intravitreal injections. DESIGN: Retrospective consecutive case series. METHODS: This study included 102 patients (n = 115 eyes) with treatment-naïve neovascular AMD and PED (>150 μm), who were treated with either ranibizumab (n = 68 eyes) or aflibercept (n = 47 eyes). A multivariate analysis using stepwise linear regression was performed in order to assess factors influencing visual acuity improvement, as well as treatment response of PED height after 3 monthly injections. RESULTS: Multivariate analysis revealed that better visual improvement was associated with lower best-corrected visual acuity (BCVA) at baseline (P = .001), presence of subretinal fluid (P = .001), and retinal angiomatous proliferation (P = .001); PED reduction was associated with higher PED at baseline (P = .001), predominantly serous PED (P = .003), and the use of aflibercept (P = .022). Drug type was not associated with change in BCVA at 3 months. CONCLUSION: Eyes with neovascular AMD and PED showed significant functional and anatomic response after 3 monthly intravitreal anti-VEGF injections. The functional response depended on baseline BCVA, presence of subretinal fluid, and retinal angiomatous proliferation, while anatomic response was influenced by baseline PED height, degree of vascularization, and drug type. Drug type was not associated with change in BCVA, but had a weak effect on anatomic response.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN: Retrospective clinical and molecular genetic study. METHODS: Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot. RESULTS: We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1-0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families. CONCLUSIONS: The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases, which could be underdiagnosed.