Metastatic Choroidal Melanoma Presenting as Neovascular Glaucoma

Uveal melanoma is the most common primary intraocular tumor in adults and can have varying presentations, although it is frequently asymptomatic. One rare presentation of uveal melanoma is neovascular glaucoma (NVG). We present a case of a 20-year-old male who presented with 2 weeks of left eye redness and decreased vision who was found to have NVG. He was referred for evaluation of glaucoma. Fundoscopic and ultrasonographic examination revealed a mushroom-shaped choroidal mass with low internal reflectivity consistent with choroidal melanoma. The patient underwent enucleation, and metastatic workup revealed hepatic metastases. The patient died 18 months after initial diagnosis. This case emphasizes the importance of a complete ophthalmic evaluation in cases presenting with NVG of unclear etiology to exclude the presence of a potentially life-threatening intraocular tumor.

Intraocular Schwannoma: Case Series of 28 Patients and Literature Review

Background: Intraocular schwannoma is a rare intraocular tumor, which is often misdiagnosed. We aimed to analyze the demographics and clinical characteristics of patients with intraocular schwannoma.Methods: Retrospective case series were collected from May 2005 to July 2021 in Beijing Tongren Hospital. Then a literature review was also performed.Results: A total of 28 patients were diagnosed with intraocular schwannoma histopathologically. The median age (range) of the included patients was 39 (12-64) years old, among whom half subjects were female. The most common symptom was visual loss (75.0%), followed by visual field loss (10.7%). Intraocular schwannoma presented as nonpigmented mass, which occurred mainly in ciliary body (42.9%), followed by choroid (32.1%) and ciliochoroid (25.0%).16 patients (57.1%) were clinically misdiagnosed as uveal melanoma. Tumor excision was performed for all patients and increased light transmission was detected in half cases. In the consecutive follow-up (median: 6.0 years, range: 0.5-16.0 years), no recurrence or metastasis case was detected.Conclusions: Intraocular schwannoma is a rare benign intraocular tumor. It usually presents as nonpigmented mass, which is easily misdiagnosed as nonpigmented uveal melanoma.

Circulating tumor DNA tracking through driver mutations as a liquid biopsy-based biomarker for uveal melanoma

Background Uveal melanoma (UM) is the most common intraocular tumor in adults. Despite good primary tumor control, up to 50% of patients develop metastasis, which is lethal. UM often presents asymptomatically and is usually diagnosed by clinical examination and imaging, making it one of the few cancer types diagnosed without a biopsy. Hence, alternative diagnostic tools are needed. Circulating tumor DNA (ctDNA) has shown potential as a liquid biopsy target for cancer screening and monitoring. The aim of this study was to evaluate the feasibility and clinical utility of ctDNA detection in UM using specific UM gene mutations. Methods We used the highly sensitive digital droplet PCR (ddPCR) assay to quantify UM driver mutations (GNAQ, GNA11, PLCβ4 and CYSTLR2) in cell-free DNA (cfDNA). cfDNA was analyzed in six well established human UM cell lines with known mutational status. cfDNA was analyzed in the blood and aqueous humor of an UM rabbit model and in the blood of patients. Rabbits were inoculated with human UM cells into the suprachoroidal space, and mutated ctDNA was quantified from longitudinal peripheral blood and aqueous humor draws. Blood clinical specimens were obtained from primary UM patients (n = 14), patients presenting with choroidal nevi (n = 16) and healthy individuals (n = 15). Results The in vitro model validated the specificity and accuracy of ddPCR to detect mutated cfDNA from UM cell supernatant. In the rabbit model, plasma and aqueous humor levels of ctDNA correlated with tumor growth. Notably, the detection of ctDNA preceded clinical detection of the intraocular tumor. In human specimens, while we did not detect any trace of ctDNA in healthy controls, we detected ctDNA in all UM patients. We observed that UM patients had significantly higher levels of ctDNA than patients with nevi, with a strong correlation between ctDNA levels and malignancy. Noteworthy, in patients with nevi, the levels of ctDNA highly correlated with the presence of clinical risk factors. Conclusions We report, for the first time, compelling evidence from in vitro assays, and in vivo animal model and clinical specimens for the potential of mutated ctDNA as a biomarker of UM progression. These findings pave the way towards the implementation of a liquid biopsy to detect and monitor UM tumors.

The Impact of Eye Size in Retinoblastoma

Background: The typical imaged findings of retinoblastoma are an intraocular tumor with intratumoral calcification. Normal eye size is a supported finding of retinoblastoma. In practice, more than just a few cases had an altered eye size. Objective: To evaluate the effect of eye size in retinoblastoma. Materials and Methods: The present study included 47 patients with 54 diseased eyes. Twenty-seven patients underwent enucleation with histopathological results. The axial lengths (AL) and equatorial diameters (ED) were measured in both diseased and normal eyes. The imaging characteristics, tumor volume, and histopathological findings were recorded and analyzed. Results: The results showed no statistically significant differences between AL, ED, and calculated eye volumes (EV) between diseased and normal eyes. Anterior chamber depths were statistically shallower in retinoblastoma eyes (p<0.001). EV was weakly associated with tumor volumes. Large eye size was significantly related to choroidal invasion, massive choroidal invasion, scleral invasion, and optic nerve invasion in pathology (p=0.04, 0.03, 0.02, and 0.04, respectively). Conclusion: There were no statistically significant differences of eye size parameters in the eyes with retinoblastoma when compared to the normal eyes. Large eye size and large tumor volume are significantly related to invasive histopathological results. Keywords: Retinoblastoma, Intraocular tumor, Eye size, Tumor volume, Histopathology, Neoplasm invasion

Posterior Scleritis: About A Case

Posterior scleritis is a rare and often unknown condition that can simulate many conditions including intraocular tumor or orbital pathology. We report the case of a 44-year-old patient with left eye pain and redness followed by a significant decrease in visual acuity. Clinical examination showed papillary hyperemia, chorioretinal folds at the posterior pole, venous tortuosity, and absence of hyalitis or vasculitis in the fundus oculi associated angiography retinal. Orbital-cerebral MRI and B ultrasound allowed the diagnosis of posterior scleritis

Optical Coherence Tomography Angiography Detects Choriocapillaris Loss in Decalcification of Choroidal Osteoma

Purpose: Choroidal osteoma, which typically affects young women, is a benign intraocular tumor composed of mature bone within the choroid. Tumor decalcification and subfoveal choroidal neovascularization often lead to poor visual acuity although the etiology is unknown. Choriocapillaris characteristics in choroidal osteoma also are unknown. Methods: We report 4 cases of choroidal osteoma with decalcification in which the choriocapillaris could be imaged by optical coherence tomography angiography (OCTA). Results: OCTA showed that the choriocapillaris structure was maintained in the calcified portion, whereas a loss occurred in parts of the decalcified portion in all cases. Conclusions: OCTA may be useful for understanding the pathological states of choroidal osteoma.

Optical coherence tomography in optic disc pit diagnosis

The optic disc pit is a congenital anomaly, presenting as a round or oval depression in the optic disc, 0.10.7 disc diameters in size, located mainly along its lower-temporal margin. Approximately in 45-75% of the eyes with congenital optic disc pit a serous detachment of neuroepithelium (NED) in the macular area develops, which could become a cause for an erroneous diagnosis of an intraocular tumor. The article presents a clinical case of the optic disc pit, which required a differential diagnosis with an intraocular tumor. It is shown that OCT signs of the optic disc pit are: the connection of optic disc structures with the subretinal space, as well as the presence of signs of invagination of the retinal nerve fiber layer in the optic disc structures.