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We report the rare development of choroidal neovascular membrane at the site of diagnostic transvitreal fine-needle aspiration biopsy of subretinal pigment epithelial infiltrates in an eye with vitreoretinal lymphoma. Purpose: To report development of choroidal neovascular membrane at the site of diagnostic transvitreal fine-needle aspiration biopsy of subretinal pigment epithelial infiltrates in an eye with vitreoretinal lymphoma. Methods: Case report. A 75-year-old white woman with 14-month history of bilateral vitritis. Results: Examination showed vitreous infiltration in both eyes and yellow-white subretinal pigment epithelial infiltrates temporally in the left eye. Visual acuity was 20/400 in both eyes. Transvitreal fine-needle aspiration biopsy of subretinal pigment epithelial infiltrate in the left eye using a long 27-gauge needle attached to a 10-mL syringe revealed large B-cell lymphoma. Treatment was initiated with monthly intravitreal injections of melphalan (10 μ g/0.05 mL) to both eyes. One month after first injection, visual acuity in the left eye had decreased to hand motion, and new ill-defined patches of retinal whitening were noticeable in the temporal macular area. Intravenous fluorescein angiography and optical coherence tomography angiography showed large choroidal neovascular membrane temporally at the site of previous fine-needle aspiration biopsy. Four monthly injections of intravitreal bevacizumab (1.25 mg/0.05 mL) resulted in complete regression of choroidal neovascular membrane with improvement of visual acuity to 20/100 in the left eye. Conclusion: This case demonstrates the rare development of choroidal neovascular membrane at the site of diagnostic transvitreal fine-needle aspiration biopsy of subretinal pigment epithelial infiltrates in an eye with vitreoretinal lymphoma. [ABSTRACT FROM AUTHOR]

We report the rare development of diffuse vitreous and preretinal seeding with retinal and optic nerve invasion after transvitreal fine-needle aspiration biopsy of choroidal melanoma. Background/Purpose: To report vitreous and epiretinal seeding of choroidal melanoma after transvitreal fine-needle aspiration biopsy (FNAB). Methods: A 74-year-old Caucasian man with a medium-sized, dome-shaped choroidal melanoma without Bruch membrane rupture, retinal invasion, or vitreous seeding. Transvitreal FNAB was performed for cytopathologic evaluation using a long 27-gauge needle attached to a 10-mL syringe by connector tubing. After passing through the pars plana, vitreous cavity, neurosensory retina, and Bruch membrane, the needle was inserted into the tumor and aspiration was performed. Results: Cytopathologic evaluation revealed spindle B melanoma cells, and the tumor was subsequently treated with an 18-mm round Iodine-125 radioactive plaque delivering a tumor apex radiation dose of 7,000 cGy. Transscleral FNAB for cytogenetic evaluation performed at the time of plaque application disclosed chromosome three monosomy and chromosome six and eight disomy. Vitreous pigmented cells were first noted 14 months after brachytherapy. Funduscopy and optical coherence tomography at 24 months after plaque radiotherapy showed extensive vitreous and preretinal pigmented seeding that completely covered the optic disk. Fine-needle aspiration biopsy of the vitreous confirmed the presence of malignant melanoma cells, and the right eye was enucleated. Histopathologic evaluation showed a totally necrotic choroidal melanoma and an extensive malignant epiretinal membrane that covered and extended into the substance of the optic nerve head and focally invaded the neurosensory retina. The patient developed liver metastasis 3 years after the initial presentation and died 10 months later. Conclusion: This case demonstrates the rare development of extensive vitreous and preretinal seeding with retinal and optic nerve invasion after transvitreal FNAB of choroidal melanoma. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of presumed choroidal nevus that eventually grew into melanoma in a patient with family history of choroidal melanoma and germline BAP1 mutation. Methods: Case report. Results: A 55-year-old healthy white woman with a family history of uveal melanoma in her father, paternal aunt, and paternal cousin was referred for evaluation of an asymptomatic small pigmented choroidal lesion in her right eye, measuring 2 mm x 2 mm in basal diameter and 1 mm in thickness. There were no clinical risk factors. The patient was advised routine monitoring but returned 4 years later with intermittent photopsia. The choroidal mass demonstrated growth and suggestive of transformation into melanoma, measuring 9 mm x 6 mm in basal diameter and 2.5 mm in thickness with overlying orange lipofuscin pigment and no associated subretinal fluid. Fine-needle aspiration biopsy disclosed Chromosome 3 mosaic monosomy and Chromosomes 6 and 8 disomy. Iodine 125 plaque radiotherapy was provided. Based on growth to melanoma and strong family history of uveal melanoma, BAP1 germline mutation testing was performed, and the results were positive. Conclusion: This case demonstrates growth of a presumed choroidal nevus into melanoma in the setting of underlying germline BAP1 mutation. We suggest that small pigmented choroidal lesions be monitored closely in patients with germline BAP1 mutation or with family history of uveal melanoma, even in the absence of known local risk factors predictive of tumor growth. [ABSTRACT FROM AUTHOR]

Purpose: To report a patient with clinically invisible retinal astrocytic hamartomas (RAHs) detected on optical coherence tomography (OCT) and studied with OCT angiography (OCTA). Method: Case report. Results: An 11-year-old healthy girl was evaluated for reduced visual acuity in the right eye. On examination, best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination revealed blunted foveal reflex in the right eye and normal findings in the left eye. Optical coherence tomography disclosed an abruptly elevated, honeycomb-like macular mass with thin filamentous walls in the right eye, limited to the nerve fiber layer and measuring 756 mm in thickness. The numerous intralesional cavities (optically empty spaces) displayed no calcification. These findings were consistent with Type IV RAH. Optical coherence tomography of the left eye revealed intact foveola and focal nerve fiber layer thickening inferiorly without cavity, measuring 136 mm in thickness, consistent with Type I RAH. En face OCTA detected microvascular flow within the walls of the cavitary RAH in the right eye. Bilateral RAH in a child with no systemic evidence of tuberous sclerosis syndrome was established. Conclusion: Multimodal imaging is important in revealing causes of visual loss and in the detection of subclinical fundus tumors. In this case, clinically invisible RAHs were detected only by OCT and surrounding vascular flow by OCTA. [ABSTRACT FROM AUTHOR]

Purpose: Birt–Hogg–Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, “flecked chorioretinopathy,” and one report of choroidal melanoma. We report a patient with BHDS who presented with choroidal melanoma, sector melanocytosis, and retinal pigment epithelial microdetachments. Methods: Observational case report. Results: A 38-year-old man with BHDS manifesting with facial fibrofolliculomas/tricodiscomas and pulmonary cysts with previous pneumothorax of both lungs was noted to have a large choroidal nevus, managed with observation elsewhere. On referral 1 year later, photopsia and visual field defect were noted, and the patient was discovered to have subtle patchy sector ocular melanocytosis of the iris and choroid with choroidal melanoma and dependent subretinal fluid. The melanoma measured 14 mm in basal dimension and 6.8 mm in thickness. In addition, pinpoint retinal pigment epithelial microdetachments were observed in both eyes at the equator and confirmed on optical coherence tomography. Custom-fit plaque radiotherapy was provided for tumor control. Conclusion: The BHDS can be associated with tumors of the skin and kidney. In this case, we noted ocular melanocytosis, malignant choroidal melanoma, and bilateral pinpoint retinal pigment epithelial detachments. [ABSTRACT FROM AUTHOR]

Purpose: To describe two cases of coughing-induced suprachoroidal hemorrhage referred as choroidal melanoma. Methods: Observational case reports. Results: Two female patients (ages 54 and 60 years) were referred with possible choroidal melanoma. Both gave a history of 1 day of heavy coughing with Valsalva maneuver within 2 weeks before discovery of the tumor. In one case, the patient used anticoagulants for aortic valve replacement and the other patient used antiasthma medications. One patient noted sharp ocular pain one week before presentation to this service. In both cases, the choroidal lesion was at the globe equator, near a vortex ampulla, and appeared homogeneously dark brown and with acoustic hollowness on ultrasonography, concerning for choroidal melanoma. However, neither lesion demonstrated intrinsic vascularity on fluorescein angiography or indocyanine angiography. Both lesions showed isoautofluorescence and optical coherence tomography evidence of shallow choroidal folds with inner choroidal elevation over a dome-shaped, optically-lucent deep choroidal mass, consistent with suprachoroidal hemorrhage. Fine needle aspiration biopsy in 1 case confirmed blood without melanoma. Both cases were observed with complete spontaneous resolution of the hemorrhage and normal-appearing choroid within 2 months. Conclusion: Coughing-induced suprachoroidal hemorrhage can simulate melanoma. Clinical and imaging features can assist in diagnosis. The hemorrhage generally resolves within few months. [ABSTRACT FROM AUTHOR]

Purpose: To report novel observations of previously described solitary circumscribed retinal astrocytic proliferation using spectral domain optical coherence tomography that suggests this tumor does not arise in the nerve fiber layer as initially believed, but arises within deep retinal or retinal pigment epithelial structures. Methods: Retrospective review of four cases. Results: Patient age ranged from 46 to 75 years. The tumor was pearl white or yellow-white (n = 4, 100%), located in the macula (n = 1, 25%) or macula to equator (n = 3, 75%) regions, and with mean tumor base of 1.2 mm and thickness of 0.8 mm. There were no feeding vessels, intrinsic vessels, subretinal fluid, or vitreoretinal traction. Mild surrounding retinal pigment epithelial hyperplasia and atrophy rimmed each tumor (n = 4, 100%). Fluorescein angiography depicted the mass with early hypofluorescence (n = 3/3, 100%) and late hypofluorescence (n = 2/3, 67%). Spectral domain optical coherence tomography demonstrated the mass with an abruptly elevated “snowball” configuration (n = 4, 100%), with smooth or slightly irregular surface (n = 4, 100%), and originating from deep retina or retinal pigment epithelial (n = 4, 100%), with overlying compression and draping of retinal tissue (n = 4, 100%). Conclusion: This previously described small yellow-white retinal tumor appears to arise in the outer retinal layers and not from the inner retinal layers as formerly believed. This tumor may not be astrocytic as initially believed since it arises deep within the retina, but it could represent a deep glial or pigment epithelial fibrous mass. The pathogenesis and pathology of this rare lesion remain unknown. [ABSTRACT FROM AUTHOR]

Purpose: To describe development of extraocular extension of ciliochoroidal melanoma after transscleral fine-needle aspiration biopsy (FNAB) for cytogenetic studies. Methods: Transscleral FNAB was performed for cytogenetic analysis of melanoma using a long 27-gauge needle attached to a 10-mL syringe by connector tubing entering obliquely through the sclera overlying the tumor base. An iodine 125 radioactive plaque was immediately applied to the sclera over the tumor and biopsy site after FNAB. Patients: One patient with large ciliochoroidal melanoma of the right eye. Results: Cytogenetic analysis of the melanoma revealed monosomy of chromosome 3. On examination, 18 months after plaque radiotherapy, there was regression of the tumor; however, a few small subepithelial pigmented lesions were noted in the conjunctiva close to the FNAB site. Excisional biopsy of the conjunctival pigmented lesions with 3 mm margins and with supplemental cryotherapy to the surrounding conjunctival margins and to the underlying sclera was performed. Histopathologic evaluation showed an oval nodule composed of a mixture of spindle and epithelioid cells deep within the substantia propria consistent with extraocular extension of uveal melanoma. Magnetic resonance imaging of the orbits showed no evidence of orbital involvement. This is the only case of extraocular extension developing among 408 consecutive transscleral biopsies (0.2%) performed at our center for cytogenetic or cytopathologic analysis. Conclusion: Although rare, transscleral FNAB of ciliochoroidal melanoma can lead to extraocular extension of the tumor through the biopsy site. Possible techniques to reduce the risk of this problem are discussed. [ABSTRACT FROM AUTHOR]

Purpose: To describe a tiny subclinical choroidal melanoma visualized only with enhanced depth imaging optical coherence tomography in a newly symptomatic patient with known oculodermal melanocytosis. Methods: Case report. Results: A 52-year-old white man with heterochromia and known oculodermal melanocytosis of the right eye, followed for 2 years without change, developed blurred vision and was referred for possible central serous chorioretinopathy. On examination, visual acuity was 20/20 in each eye. There was oculodermal melanocytosis in the right eye involving the periocular skin, episclera, iris, and choroid. On ophthalmoscopy and ocular ultrasonography, there was no appreciable mass, but subtle subfoveal fluid and perifoveal orange pigment were detected, as well as equatorial drusen. Enhanced depth imaging optical coherence tomography demonstrated a subtle optically dense focal choroidal mass measuring 4.5 mm in basal dimension and 0.7 mm in enhanced depth imaging optical coherence tomography thickness. There was choroidal vascular compression, obliteration of choroidal details, and related overlying subretinal fluid with shaggy photoreceptors, consistent with early choroidal melanoma in an eye with oculodermal melanocytosis. The patient elected early treatment considering the risk factors for growth and the risk for metastasis associated with melanoma in the setting of oculodermal melanocytosis. Plaque radiotherapy was performed with complete tumor regression clinically and by enhanced depth imaging optical coherence tomography. At 2-year follow-up, visual acuity remains 20/20, with regressed tumor and no systemic metastasis. Conclusion: Enhanced depth imaging optical coherence tomography is a useful tool in the evaluation of eyes with oculodermal melanocytosis, permitting high-resolution visualization of the choroid and detection of submillimeter early melanoma that might not be apparent with indirect ophthalmoscopy or ultrasonography. [ABSTRACT FROM AUTHOR]

The article presents the case of a 32-year-old white male who was presented with a 4-month history of blurred vision in the right eye. On examination, he has no visible intraocular tumor and has no signs of anterior segment inflammation, vascular abnormalities or infiltrative disease. Through the use of enhanced depth imaging optical coherence tomography (OCT), he was diagnosed with choroidal lymphoma.