Atypical case of choroidal osteoma associated to polypoidal choroidal vasculopathy and preretinal neovascular membrane.

PURPOSE: To report a very rare and atypical case of an elderly Caucasian female patient who developed perilesional multiple polypoidal choroidal vasculopathy (PCV) as a probable complication of choroidal osteoma (CO), associated to preretinal neovascular membrane overlying the lesion. METHODS: Observational case report. CASE OBSERVATION: A 60-year-old Caucasian woman presented with blurred vision in her right eye (RE). Fundus examination revealed a round white-yellowish calcified deep lesion in the juxta-papillary superior area, measuring 4 disc-diameters, with well-defined scalloped margins and an irregular surface. B-scan ultrasonography and orbital tomography confirmed the diagnosis of choroidal osteoma (CO). Further investigation with multimodal imaging including infracyanine green angiography, fluorescein angiography, swept source optical coherence tomography and angiography highlighted the presence of multiple aneurysmal choroidal dilations around the CO, corresponding to PCV. We also noted the presence of a preretinal neovascular membrane overlying the CO. The patient was monitored with regular follow-up since no signs of activity were detected on multimodal imaging. CONCLUSION: Our case report represents an exceptional and atypical association between pre-retinal neovascularization, PCV and choroidal osteoma. While the mechanisms underlying the development of PCV and pre-retinal neovascularization in the setting of CO are not well understood, it is imperative for ophthalmologists to recognize this association as a potential cause of sudden vision loss in patients with CO, and to consider appropriate diagnostic and management strategies.

Bilateral choroidal osteoma: long-term follow-up of secondary choroidal neovascularization in a child using antiangiogenic therapy.

Choroidal osteoma is a rare condition, and its treatment is not well established, especially in the pediatric population, where use of antiangiogenics for choroidal neovascularization is poorly studied. Few studies have reported the long-term follow-up of pediatric patients with bilateral choroidal osteomas. We report the case of a girl who was diagnosed at the age of 3, with the appearance of bilateral secondary choroidal neovascularization, and has been under strict observation for 12 years. The effectiveness of antiangiogenic agents as a long-term therapeutic option for secondary choroidal neovascularization in pediatric patients with symptomatic choroidal osteomas is discussed.

Huge osteoma in the frontoparietal bone caused by trauma from 18 years ago: a case report.

BACKGROUND: Osteomas are asymptomatic, benign tumors and are diagnosed accidentally by radiological investigations conducted for other reasons. In some cases, they may cause aesthetic or functional symptoms by affecting nearby organs. The cause of osteoma is still dialectical. Many theories suggest that inflammation, trauma, or congenital causes are behind its formation. In our case, the patient presented with a symptomatic and huge osteoma in the frontoparietal bone caused by trauma from 18 years ago. CASE PRESENTATION: A 24-year-old Syrian woman came to our hospital complaining of headaches, syncope episodes, blurred vision, and tumor formation in the frontoparietal region. The medical and surgical histories of the patient revealed appendectomy and head trauma when she was 6 years old in a traffic accident. Radiological investigations showed thickness in the space between the two bone plates in the left frontoparietal region, which reached the orbital roof without cortical destruction or periosteum reaction; the tumor size was 5 cm × 5 cm. A surgical excision was indicated. Under general anesthesia, the surgery was done for the tumor excision. The histopathology examination emphasized the diagnosis of osteoma. The follow-up for 7 months was uneventful. CONCLUSION: This paper highlights the importance of focusing on the medical history of patients with osteoma in an attempt to explain the reasons for its occurrence. It stresses the need to put osteoma within the differential diagnoses of skull tumors.

A novel APC mutation associated with Gardner syndrome in a Chinese family.

Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province. The family members underwent a comprehensive survey, which involved collecting clinical data and peripheral venous blood samples. The samples were then used for genetic analysis. Whole exome sequencing (WES) and Sanger sequencing techniques were utilized to screen and identify specific mutation sites in the APC gene. The clinical findings for the GS family included the presence of gastrointestinal polyps and odontomas. After analyzing the genetic sequencing results, a novel mutation site c.4266dupA on the APC gene was found in the patients, which leading to the APC protein truncation. As a result of this study, it is suggested that odontoma may be an early indicator of GS. Additionally, the identification of this novel mutation site in the APC gene expands the known spectrum of genetic mutations associated with the disease. This discovery has significant implications for the early diagnosis of GS, thus enabling timely intervention to reduce the risk of developing colon cancer and other related diseases.

Clinical features and therapeutic management of choroidal osteoma: A systematic review.

Choroidal osteoma is a benign ossifying tumor within the choroid. Complications associated with choroidal osteoma, including disruption of retinal pigment epithelium, atrophy of photoreceptors, subretinal fluid, and choroidal neovascularization, present challenges for clinicians, and management remain controversial. We performed a comprehensive search in the PubMed, EMBASE, and Ovid databases for published studies and case reports relating to the management of choroidal osteoma. Since it was first described in 1978, various case reports of ocular complications associated with choroidal osteoma have been documented, and various therapies have yielded different outcomes. We systematically evaluate the literature published on this rare entity.

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects.

Choroidal neovascularizations are historically associated with exudative macular degeneration, nonetheless, they have been observed in nevus, melanoma, osteoma, and hemangioma involving the choroid and retina. This review aimed to elucidate the possible origins of neovascular membranes by examining in vivo and in vitro models compared to real clinical cases. Among the several potential mechanisms examined, particular attention was paid to histologic alterations and molecular cascades. Physical or biochemical resistance to vascular invasion from the choroid offered by Bruch's membrane, the role of fibroblast growth factor 2 and vascular endothelial growth factor, resident or recruited stem-like/progenitor cells, and other angiogenic promoters were taken into account. Even if the exact mechanisms are still partially obscure, experimental models are progressively enhancing our understanding of neovascularization etiology. Choroidal neovascularization (CNV) over melanoma, osteoma, and other tumors is not rare and is not contraindicative of malignancy as previously believed. In addition, CNV may represent a late complication of either benign or malignant choroidal tumors, stressing the importance of a long follow-up.

The role of choriocapillaris vessel density in the pathogenesis of macular neovascularization associated with choroidal osteoma.

PURPOSE: To detect the vessel density of choriocapillaris (CC) vascular network in eyes affected by choroidal osteoma and in eyes complicated by macular neovascularization (MNV), using optical coherence tomography angiography (OCTA). METHODS: In this retrospective study, twenty-eight eyes of 28 patients were divided into three groups: group 1 including patients with calcified choroidal osteoma, group 2 including patients with decalcified choroidal osteoma, and group 3 including patients with decalcified choroidal osteoma complicated by MNV. OCTA analyzed the vessel density of CC in these lesions localized in the peripapillary region. RESULTS: We enrolled 12 eyes with calcified choroidal osteoma, 11 eyes with decalcified choroidal osteoma, and 5 eyes with decalcified choroidal osteoma complicated by MNV. The eyes with decalcified choroidal osteoma and MNV revealed a statistically significant reduction in vessel density of the CC respect to the other groups (p < 0.001). Moreover, the vessel density of CC in decalcified choroidal osteoma was significantly reduced compared to calcified choroidal osteoma (p < 0.001). CONCLUSIONS: OCTA allowed a quantitative evaluation of choriocapillaris vessel density in choroidal osteoma, in order to detect the changes of this vascular network, which could lead to the development of MNV. Therefore, OCTA could be a new diagnostic tool in the clinical management of the choroidal osteoma. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05342324.

Predicting Visual Outcomes in Choroidal Osteoma Treated with Anti-vascular Endothelial Growth Factor.

PURPOSE: To determine potential factors associated with the long-term visual prognoses in patients with choroidal osteoma undergoing anti-vascular endothelial growth factor (VEGF) treatment. DESIGN: Retrospective case series. METHODS: Patients diagnosed at tertiary high-volume hospitals between January 2000 and December 2020 were evaluated. The primary outcome measure was visual acuity at 5-year follow-up. The secondary outcome measures included factors associated with favorable vision, defined as loss of <1 line and >20/200 vision. RESULTS: Of 38 eyes from 36 patients (22 female, 61%; mean age 38 years) with choroidal osteoma, 23 eyes (61%) received anti-VEGF treatment (bevacizumab 1.25mg/0.05 cc, monthly or treat-and-extend) and 65% completed the 5 years of follow-up. All treated eyes had associated chorioretinal comorbidities (subretinal fluid 91%; choroidal neovascularization 74%; subretinal hemorrhage 30%). Although there was significant vision loss by 5 years (P = .002), 12 eyes (44%) had favorable outcomes. Only tumor thickness was significantly associated with unfavorable visual outcomes (OR 917.1, 95% CI 1.0-5687.7; P = .049). The optimal cut-off point predictive of visual outcomes was 1.4 mm, and tumor thickness ≥ 1.4 mm was associated with unfavorable vision (OR 27.0, 95% CI 2.0-368.4; P = .013). CONCLUSIONS: Among patients with choroidal osteoma undergoing anti-VEGF therapy, a particular patient subset presented with divergent outcomes with very poor vision. Tumor thickness appeared to be the differentiating factor and is thus a potential prognostic indicator for long-term visual prognoses.

Dual biologic therapy for severe ulcerative colitis, concomitant extraintestinal manifestations and an orbital osteoma: a successful treatment.

It is difficult to manage UC patients with tumor and extraintestinal manifestations (EIMs). We present this case of acute severe UC patient with peripheral arthritis and orbital tumor could be successfully managed by the concomitant use of two biologics (Dual targeted therapy, DTT) including vedolizumab (VDZ) and ustekinumab (UST). VDZ is approved for the treatment of patients with moderate-to-severe UC, but might have limited efficacy in treating EIMs due to its gut specific mechanism. UST shows clinical efficacy in the treatment of EIMs and is used for UC treatment.

Complications, treatments, and visual prognosis of choroidal osteomas.

PURPOSE: This study aims to report complications, treatments, and visual prognosis of choroidal osteoma. METHODS: We retrospectively reviewed electronic medical records and multimodal images of 41 patients with choroidal osteoma. RESULTS: Visually significant complications included choroidal neovascularization (CNV) in 21 (47.7%) eyes and subretinal fluid (SRF) without CNV in 14 (31.8%) eyes. The most common treatment was intravitreal anti-vascular endothelial growth factor (VEGF) injection: 13 (61.9%) eyes with CNV received an average of 6.3 injections, and 6 (42.9%) eyes with SRF but without CNV received 1.8 injections. As the first-line treatment, intravitreal anti-VEGF injection induced complete or partial remission in 93.4% of eyes with CNV and 57.1% of eyes with SRF. The probability of legally low vision estimated at 3 and at 5 years was 29.1% and 34.2%, respectively. The presence of CNV and outer retinal tubulation (ORT) was independent risk factors for vision loss (adjusted odds ratio, 8.08 and 6.94, respectively). CONCLUSIONS: The development of CNV and ORT was strong risk factors for visual impairment. Due to the frequent recurrence of complications and poor visual prognosis, regular check-ups and appropriate treatment choices are warranted.

Photodynamic therapy for macular choroidal osteoma.

PURPOSE: To report a case of macular choroidal osteoma treated with photodynamic therapy. OBSERVATIONS: A 34-years old woman with decreased visual acuity in her left eye came to our observation for assessment of an amelanotic choroidal tumor in the left eye. On the basis of ophthalmoscopic and echographic features the tumor was diagnosed as choroidal osteoma. Imaging examination revealed subretinal fluid involving the foveal area associated with alterations of outer neuroepithelial layers and photoreceptors without evidence of choroidal neovascularization. Foveal sparing standard fluence rate photodynamic therapy was performed. After treatment, subretinal fluid reabsorption and visual acuity recovery was noted with progressive restoration of foveal architecture. Due to the relapse of fluid and visual impairment, 1 year after treatment, a second PDT session was made using the same parameters and protocol of treatment. Despite a complete subretinal fluid reabsorption and visual acuity recovery the second treatment was complicated by the development of subretinal fibrosis. CONCLUSIONS: PDT is effective to induce subretinal fluid reabsorption and visual recovery in choroidal osteoma located in the macular area. However, the risk of possible complications related to the treatment have to be considered.

DARK WITHOUT PRESSURE IN A CASE OF CHOROIDAL OSTEOMA.

PURPOSE: To report a novel case of dark without pressure in a patient with a choroidal osteoma. To our knowledge, this association has not been previously reported. METHODS: Observational case report. Review of clinical examination and multi-modal imaging findings in a patient with a choroidal osteoma and dark without pressure. RESULTS: A 21-year-old African American woman with no significant past medical history presented with a large, unilateral, juxtapapillary, subretinal, orange-colored, ovoid-shaped lesion with macular involvement. An overlying area of mottled pigmentary changes, fibrosis, and atrophy were present. Adjacent to and surrounding the osteoma was an annular band of hyperpigmented mid-peripheral retina with a sharply demarcated scalloped border that abruptly changed to normal-appearing peripheral retina. Multi-modal imaging including wide-field fluorescein angiography, optical coherence tomography, and ophthalmic B-scan were performed. The funduscopic and imaging findings were consistent with a diagnosis of choroidal osteoma and dark without pressure. CONCLUSION: The examination and imaging findings in this patient suggest a unique association between two relatively uncommon lesions, choroidal osteoma, and dark without pressure. Although these two lesions may simply be coinciding in the same eye, there may be an association with space-occupying lesions causing a change in photoreceptor structure.

DEVELOPMENT OF CHOROIDAL NEOVASCULARIZATION AFTER TREATMENT WITH PHOTODYNAMIC THERAPY IN A 5-YEAR-OLD FEMALE WITH CHOROIDAL OSTEOMA.

PURPOSE: To describe a patient with a choroidal osteoma treated with photodynamic therapy to prevent tumor growth in whom choroidal neovascularization (CNV) developed after being treated with photodynamic therapy. METHODS: Case report. RESULTS: A 5-year-old Hispanic woman presented with an asymptomatic choroidal osteoma, temporal to the macula of her right eye. According to the patient's mother, her medical, surgical, and family history was unremarkable. At examination, best-corrected visual acuity was 20/30 in both eyes. After 11 months of follow-up, signs of tumor growth toward the fovea without any signs of CNV was noted. Photodynamic therapy was performed to prevent invasion of the foveola. Two months thereafter, the patient developed CNV in the macula region in the right eye, decreasing visual acuity to 20/200. The patient was treated with four total intravitreal injections of 1.25 mg of bevacizumab over 24 weeks, which resulted in inactivation of the CNV and improved visual acuity to 20/20. Choroidal neovascularization had been never reported in her past history and her follow-up visits over 7 years. In addition, no evidence of recurrent neovascular activity or tumor growth was reported. CONCLUSION: Choroidal osteoma is a benign tumor that can result in vision-threatening complications, caused by tumor growth and tumor decalcification. Photodynamic therapy is an effective modality in inducing choroidal osteoma decalcification and stabilization; however, CNV due to reperfusion following photodynamic therapy can be seen in the retina.

Secondary choroidal neovascularization due to choroidal osteoma after 9 years follow-up.

BACKGROUND: Choroidal osteoma is a benign intraocular tumor that can increase risk of developing choroidal neovascularization. The visual prognosis is influenced by the tumor location, decalcification status, overlying RPE atrophy, presence of choroidal neovascularization, persistence of subretinal fluid and occurrence of subretinal hemorrhages. CASE PRESENTATION: The authors present a 40-year-old woman diagnosed with choroidal osteoma of the right eye. Her best corrected visual acuity was 12/20 but decreased to 5/20 due to secondary choroidal neovascularization after 8 years follow up. Fundus examination revealed an enlarged choroidal osteoma in most margins at posterior pole with schistose hemorrhage beside macula. Optical coherence tomography angiography revealed unique features in the vascular changes of choroidal neovascularization in choroidal osteoma in the outer retinal layer and choroid capillary layers, and subretinal neovascularization. Indocyanine green fluorescence angiography showed there was hypo-fluorescence at the peripapillary with faint hyper-fluorescence at the macular, corresponding to the location on the fundus photograph. The patient received 3 injections of intravitreal ranibizumab. After 1 year follow up, her visual acuity of the right eye was 18/20 and the CNV had regressed. CONCLUSIONS: We present the findings and treatment of a case of choroidal osteoma with secondary choroidal neovascularization. Optical coherence tomography angiography combined with FFA and ICGA is used to analysis the characteristics of secondary choroidal neovascularization. Optical coherence tomography angiography can reveal some unique characteristics in the vascular changes compared to fundus fluorescein angiography.