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Background: Autosomal dominant neovascular inflammatory vitreoretinopathy (NIV), formerly called "ADNIV," is a rare autoinflammatory condition mainly of adulthood caused by mutations in calcium-activated calpain-5 protease (CAPN5). Our aim is to report the treatment and visual outcomes of children newly diagnosed with NIV after systemic treatment. Methods: We reviewed charts of patients ≤18 years old with CAPN5 gene mutation, ocular findings consistent with NIV, and treated with systemic immunosuppression for a minimum of 6 months. Treatment response was based on ophthalmic examination, ultra-widefield fluorescein-angiography (UWFFA), and optical coherence tomography (OCT). Results: Eight children (16 eyes) were diagnosed with NIV at a median age of 14 (Range [R] 9–16) years, with a median follow-up of 18 months (R6–20). At diagnosis, one patient had impaired visual acuity (VA > 0.4), eight had vascular leakage, two had neovascularization, and three had macular edema. All responded to oral or local glucocorticoids but was not sustained. Systemic immunosuppression was started in seven patients with methotrexate and infliximab after a median time from diagnosis of 1.5 months (R0.5–2) and 3.2 months (R2.5–3.1), respectively. Infliximab was discontinued in all after a median time of 7 months (R3.5–10) for ineffectiveness, and 5/7 switched to tocilizumab and 1 to adalimumab. Five failed to respond (4 tocilizumab, 1 adalimumab) and one had a minimal response to tocilizumab Conclusions: We report on the systemic treatment response of seven children with ADNIV treated with methotrexate, infliximab, and tocilizumab. None were able to control disease. Further studies are needed to understand long-term outcomes and the utility of systemic immunosuppression. [ABSTRACT FROM AUTHOR] more...

Background and Objective: Retinal gliovascular proliferation (RGVP) is a benign lesion of the retina that can arise idiopathically or secondary to another disease entity. This study describes the clinical features, treatment, and outcomes of six patients with secondary RGVP associated with irradiated, regressed retinoblastoma, and distinguishes it from late local relapse of retinoblastoma. Patients and Methods: In a retrospective review of available clinical records of 550 patients evaluated for retinoblastoma in a single ocular oncology practice between 1975 and 2022, seven eyes of six patients were identified as having secondary RGVP overlying a treated and regressed retinoblastoma. The clinical features, treatment, and outcomes are described. Results: The median age at RGVP diagnosis was 20 years. All RGVPs were associated with a completely regressed retinoblastoma and in proximity to a calcific tumor residue or chorioretinal atrophy that remained after external beam radiotherapy (six eyes) or plaque brachytherapy (one eye). Lesions were measured between 2.8 to 12 mm in largest basal diameter and 1.3 to 4.4 mm in thickness and described as globular, raised areas with focal retinal telangiectasis often associated with overlying subretinal fluid or hemorrhage. Median time between initial retinoblastoma treatment and detection of RGVP was 20 years. Treatment was decided based on evidence of lesion growth and most often consisted of laser photocoagulation and intravitreal anti-VEGF injection. Through available follow-up of the treated lesions, all exhibited at least partial regression, while two untreated lesions remained stable, reassuring us against late local relapse of retinoblastoma. Conclusions: Secondary RGVP develops occasionally in association with regressed previously irradiated retinoblastoma. This lesion must be distinguished from late local relapse of active retinoblastoma. [Ophthalmic Surg Lasers Imaging Retina 2024;55:714–720.] [ABSTRACT FROM AUTHOR] more...

Introduction: A retrospective review of patients treated for retinoblastoma who developed a non-pineoblastoma second primary malignant neoplasm (SPMN) was performed. Methods: The demographics, clinical features and treatments for retinoblastoma, pathologic types of non-pineoblastoma second primary malignant neoplasm (SPMN), intervals between the retinoblastoma diagnosis and treatment and diagnosis of non-pineoblastoma SPMN, treatment provided for the SPMN, and the survival outcomes of the patients were evaluated. Results: Of 550 patients treated initially for retinoblastoma, this series used the 15 (2.7) that developed a non-pineoblastoma SPMN, 14 of which (93.3%) had been treated for bilateral retinoblastoma. All patients had carried a germline mutations in the RB1 gene. The median time from retinoblastoma diagnosis to SPMN diagnosis was 19.0 years (extremes 3.4 and 39.4 years). Six of the fifteen patients died during the follow-up of their SPMN. The median interval between initial retinoblastoma diagnosis and death in the 6 patients who died of their SPMN was 18.8 years (extremes 6.2 and 34.6 years) and between diagnosis of the SPMN and death was 1.2 years (extremes 0.25 and 4 years). Discussion: Of the patients who had been treated with External Beam Radiotherapy (EBRT), 13 developed a SPMN within the previously irradiated field. [ABSTRACT FROM AUTHOR] more...

To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR). A 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findings. Genetic counseling and testing were performed with a 285 gene retinal dystrophy panel (Blueprint Genetics). Clinical characteristics, presentation, ancillary testing results, and management are described. Two previously reported heterozygous pathogenic variants in ICQB1 were identified (c.1518_1519del (p.His506Glnfs*13) and c.1381C>T, p.Arg461*) segregating in trans. In addition, a variation of uncertain significance (VUS) was found in NDP (c.280C>T; p.His94Tyr). Fluorescein angiography was performed demonstrating peripheral avascularity and retinal telangiectasia without frank neovascularization. Peripheral ablative laser was applied to the avascular zone. The NDP VUS likely represents a pathogenic variant given the FEVR phenotype in addition to retinal degeneration, creating a rare dual phenotype. The combination of low oxygen demand from the IQCB1-associated retinal degeneration and NDP variant may have led to a more attenuated FEVR presentation with uncertain prognosis. A molecular diagnosis informed ocular and renal surveillance, as well as the recurrence risk for future offspring. [ABSTRACT FROM AUTHOR] more...

Post-streptococcal uveitis syndrome is a rare inflammatory sequela following streptococcus infection most commonly occurring in young patients. Patients most typically present with bilateral anterior nongranulomatous uveitis, but posterior involvement occurs frequently. We report an immunosuppressed patient presenting with asymmetrically bilateral acute onset, panuveitis with diffuse multifocal retinitis resulting from post-streptococcal uveitis syndrome. Post-streptococcal uveitis syndrome can present as a panuveitis with multifocal retinitis. A high clinical suspicion is needed for this diagnosis especially in patients under the age of 30 years old with bilateral non-granulomatous uveitis. [ABSTRACT FROM AUTHOR] more...

Choroidal lymphoma classically presents with multifocal, creamy, yellow–white choroidal infiltrates associated with choroidal thickening. This study reports a case of a patient presenting with choroidal lymphoma and an associated choroidal neovascular membrane. Purpose: A patient with choroidal lymphoma associated with a choroidal neovascular membrane (CNVM) is described. Methods: Observational case report. Results: A 70-year-old man was referred for evaluation of bilateral uveitis with concern for intraocular lymphoma. Fundoscopic examination was notable for vitreous opacities and diffuse yellow–white, creamy choroidal infiltrates in both eyes. In the left eye, areas of hemorrhage and intraretinal fluid in the macula consistent with a CNVM were noted. Multimodal imaging confirmed the diagnosis of bilateral choroidal lymphoma with a CNVM in the left eye. The patient subsequently underwent external beam radiation therapy. The CNVM was treated with intravitreal bevacizumab. Conclusion: This case highlights the rare finding of a patient with a CNVM associated with choroidal lymphoma. Recognition and treatment of concurrent disease processes in the setting of choroidal lymphoma is important to achieve maximum visual potential. [ABSTRACT FROM AUTHOR] more...