Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography.

PURPOSE: Familial retinal arteriolar tortuosity (FRAT) is a rare autosomal dominant disorder that is characterized by tortuosity of the second and higher order retinal arterioles. We implement swept-source optical coherence tomography angiography (SS-OCTA) to quantify vessel tortuosity in patients with FRAT. We hypothesize that patients with FRAT will have higher retinal arteriole tortuosity when compared to controls. METHODS: Patients were scanned with a SS-OCTA device (Plex Elite 9000, Carl Zeiss Meditec, Dublin, CA). Images of a 12 × 12 mm2 area centered on the fovea were processed, and retinal vessels >23.5 µm in diameter were identified. An automatic tortuosity measurement program written in MATLAB was used to assess vessel tortuosity. Branch points in the vessels were detected and used to separate the vasculature into individual segments. The tortuosity was measured by calculating the arc-chord ratio of each vessel segment, where a minimum value of 1 indicated a straight vessel and higher values corresponded to increasing tortuosity. RESULTS: Two patients (4 eyes) with a known history of FRAT and six controls (12 eyes) were enrolled in the study. The mean tortuosity of all vessel segments (MTVS) in scans of FRAT eyes was on average 1.1244 [range: 1.1044-1.1438] while for control eyes it was 1.0818 [range: 1.0746-1.0872]. Average MTVS of FRAT eyes was significantly higher compared to control eyes (p = 0.03). CONCLUSIONS AND IMPORTANCE: Our results are consistent with the hypothesis that patients with FRAT have higher objective measurements of tortuosity compared to controls. Broader applications of this method may be of benefit in other retinal diseases with changes in retinal vessel configuration.

Ocular prostate cancer metastasis treated with external beam radiation.

PURPOSE: The purpose of this study was to report a rare case of ocular metastasis from prostate cancer treated successfully with external beam radiation therapy. METHODS: Case report and literature review. PATIENT: A 60-year-old man with a history of metastatic castration-resistant prostate cancer presented with decreased visual acuity in the right eye. Ophthalmoscopic examination showed a choroidal mass with characteristic surface retinal pigment epithelium spots (leopard spots), consistent with a metastatic tumor. The patient was treated with external beam radiation therapy. He had a dramatic improvement in visual acuity within 4 weeks of completing radiation treatment. Two and half years from radiation treatment to the right eye, he has maintained excellent vision (20/20 with best correction) in spite of systemic disease progression. CONCLUSION: Uveal metastasis is a rare cause of unexplained blurred vision in the setting of metastatic adenocarcinoma of prostate. Palliative external beam radiotherapy provides effective and durable relief of symptoms during treatment and is generally a well-tolerated regimen with low risk of long-term morbidity.

Metastatic cutaneous melanoma to the ciliary body in familial atypical mole-melanoma (fam-m) syndrome.

PURPOSE: To report a case of metastatic melanoma to the ciliary body in familial atypical mole-melanoma syndrome. METHODS: Retrospective case report. PATIENTS: A 46-year-old woman presented with a ciliary body melanoma and tumor seeding of the anterior chamber structures. RESULTS: Biopsy and systemic workup suggested metastatic origin. CONCLUSIONS: Correlation is noted between the noncohesive epithelioid cell type and seeding of the anterior chamber.

Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease.

OBJECTIVES: To describe the features, natural history, and management of an unusual manifestation of ocular von Hippel-Lindau disease in the form of fine vascular proliferation. METHODS: Case series of 14 patients with definite or presumed von Hippel-Lindau disease. RESULTS: Retinal vascular proliferation consisting of fine superficial vessels was found in 16 eyes of 14 patients with von Hippel-Lindau disease. The lesion was often found in a juxtapapillary location and associated with a fibrovascular component and/or a macular epiretinal membrane. In cases with follow-up (12 patients; mean [SD] follow-up, 10.9 [7.5] years), the lesion was stable in 7 of 13 eyes but showed growth and progression resulting in vision loss in the remainder. In 5 eyes, surgical intervention with pars plana vitrectomy, membrane peel, and excision of the fibrovascular lesion resulted in visual improvement in all of the cases. CONCLUSIONS: Ocular von Hippel-Lindau disease can uncommonly manifest as vascular proliferation that consists of fine, superficial, juxtapapillary vessels that are often associated with fibrovascular proliferation and epiretinal membrane formation. The natural history of this lesion is variable and can result in vision loss from tractional effects in progressive cases. Vision-threatening cases may be successfully managed by surgical excision.

Bilateral vasoproliferative retinal tumors in a patient with autosomal dominant aniridia.

PURPOSE: To document retinal vasoproliferative tumors in a patient with aniridia. METHODS: A 32-year-old woman with known autosomal dominant aniridia and lifelong visual acuity of approximately 20/80 noted further visual acuity loss. RESULTS: Examination revealed horizontal nystagmus and visual acuity of 20/100 in both eyes. Both eyes displayed a narrow rim of rudimentary iris with visualization of the entire lens and zonule. The cornea was clear and minimal posterior subcapsular cataract was noted. Both eyes showed diffuse retinal pigment epithelial alterations. The fovea was flat and without depression on optical coherence tomography. Inferiorly in both eyes was exudative retinal detachment from ill-defined vascular retinal tumors of approximately 15 mm diameter and 3.5 mm thickness. Both eyes were treated with plaque radiotherapy. CONCLUSIONS: Although aniridia typically affects the anterior segment of the eye, vision-threatening retinal detachment from vasoproliferative tumor can occur.

Immunophenotype of conjunctival melanomas: comparisons with uveal and cutaneous melanomas.

OBJECTIVE: To characterize the immunophenotypic expression pattern of conjunctival melanomas, with the use of standard melanoma markers as well as microphthalmia transcription factor and p75 neurotrophin receptor. DESIGN: Eleven conjunctival melanomas, including 1 caruncular melanoma, were immunolabeled with a panel of antibodies that included S100, tyrosinase, melan-A, HMB-45 and HMB-50 combination, microphthalmia transcription factor, and p75 neurotrophin receptor. The results were tabulated on the basis of intensity and pervasiveness of labeling and compared with a previous study of uveal melanomas. RESULTS: Immunolabeling with S100 was at significantly higher levels in conjunctival melanomas than in uveal melanomas. Tyrosinase, HMB-45 and HMB-50 combination, melan-A, and microphthalmia transcription factor were expressed at high levels in conjunctival melanomas, whereas p75 neurotrophin receptor was not expressed. CONCLUSIONS: Melanomas of the conjunctiva, including the caruncle, expressed S100, tyrosinase, melan-A, HMB-45 and HMB-50 combination, and microphthalmia transcription factor at high levels, suggesting that these are good markers for this melanoma subtype. Expression of S100 was significantly higher in conjunctival melanomas than in uveal melanomas. The immunophenotypic pattern of conjunctival melanomas is most similar to the epithelioid subtype of cutaneous melanomas.

Fractal analysis of region-based vascular change in the normal and non-proliferative diabetic retina.

PURPOSE: Evaluation of normal and abnormal vascular pattern in the human retina using a novel method: quantitative region-based fractal analysis. METHODS: Binary (black/white) vascular patterns of the human retina originating at the optic disc were obtained by semi-automatic computer processing of digital images from 60-degree fundus fluorescein angiography of 5 normal eyes and 5 eyes with non-proliferative diabetic retinopathy (NPDR). As determined by image resolution, vascular patterns included vessels with diameters >or=50 microm and excluded small vessels and capillaries. The density of linearized (i.e., skeletonized) vascular patterns in the macular region versus paramacular region (termed "region-based" linearized vascular pattern) was quantified with the fractal dimension (D(f)) and confirmed by grid intersection (rho(v)). RESULTS: By region-based quantification, D(f) and rho( v) were significantly higher in the normal macular region than in the NPDR macular region (p = 0.008 and p = 0.019, respectively). However, differences in D(f) and rho(v) between the normal and NPDR paramacular regions were not strongly significant (p = 0.168 and p = 0.337, respectively). CONCLUSIONS: Results from the retrospective analytical study demonstrate the feasibility of using quantitative region-based fractal analysis of early-stage vascular disease in the human retina. The results are encouraging for a broader study of diverse patient populations.

Immunophenotypic differences between uveal and cutaneous melanomas.

OBJECTIVE: To determine the immunophenotypic differences between uveal and cutaneous melanomas, employing standard melanoma markers as well as p75 neurotrophin receptor (p75NTR) and microphthalmia transcription factor (MITF). DESIGN: Fifteen uveal melanomas (5 spindle, 5 epithelioid, and 5 mixed uveal subtypes) were immunolabeled with a panel of antibodies that included S100, tyrosinase, melan-A, HMB-45 and HMB-50 combination, MITF, and p75NTR. The results were tabulated on the basis of intensity and pervasiveness of the labeling and compared with a prior study on cutaneous spindle and epithelioid melanomas. RESULTS: In contrast to its strong labeling of cutaneous melanomas, S100 immunolabeling of uveal melanomas was weak and variable. p75NTR, known to differentiate spindle from epithelioid melanomas of the skin, did not immunolabel uveal melanomas. HMB-45, HMB-50, tyrosinase, melan-A, and MITF immunolabeled all uveal melanomas strongly, irrespective of the histologic subtype, but not cutaneous melanomas. Microphthalmia transcription factor was especially clear in its labeling of uveal melanomas. CONCLUSIONS: Although cutaneous and uveal melanomas share many molecular markers in common, there are differences between the 2 types of melanoma. First, the level of expression of S100 differs between cutaneous and uveal melanomas. Second, while cutaneous melanomas can be further subdivided into spindle and epithelioid types based on their immunophenotype, the uveal melanomas cannot.

Ocular effects following the volcanic eruptions of Mount St Helens

Three hundred thirty-two ophthalmologists examined 1,523 patients with immediate ocular complaints following the 1980 eruptions of Mount St Helens. Loggers working up to 18 months in environments with high con centrations of volcanic ash were compared with a control group of loggers without volcanic ash contact. Althought the ash particles acted as ocular foreign bodies, the small particles were apparently well tolerated for the most part, except for acute irritation. Patients with contact lenses or sicca syndrome had the most frequent ocular complaints. To date, no long-term ocular effects have been noted secondary to volcanic ash exposure (AU)