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.].

PURPOSE:Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic (CAPN5) autoimmune condition typically diagnosed in adulthood and characterized by a triad of inflammation, retinal degeneration, and neovascularization. We report novel multimodal imaging findings in children and young adults with ADNIV, and early treatment response to short-duration local and systemic corticosteroids. DESIGN:Retrospective consecutive case series. PARTICIPANTS:Ten patients aged <25 years with ADNIV and available multimodal imaging. METHODS:The medical records of patients aged <25 years with a diagnosis of ADNIV with ultrawidefield fluorescein angiography (UWFFA) and OCT data were reviewed. MAIN OUTCOME MEASURES:Ultrawidefield fluorescein angiography and OCT findings at baseline and after local corticosteroids. RESULTS:Median age at presentation was 14 years (range, 9-24 years). OCT on presentation demonstrated cystoid macular edema in 8 of 20 eyes and symptomatic vitreoretinal interface disease in 2 of 20 eyes. Initial UWFFA demonstrated retinal vascular leakage (20/20 eyes, 100%), peripheral nonperfusion (13/20 eyes, 65%), and retinal neovascularization (6/20 eyes, 30%). Retinal vascular leakage improved with local corticosteroids, and neovascularization regressed with anti-VEGF therapy. CONCLUSIONS:Ultrawidefield fluorescein angiography findings of prefibrotic ADNIV reported in adults were also present in children and young adults. Early testing for a pathogenic CAPN5 variant in at-risk children and regularly scheduled screening for uveitis and retinal vasculitis with UWFFA and OCT may prompt earlier intervention. Short-duration local steroids are effective at treating retinal vascular leakage and macular edema but are not durable, suggesting a potential role for steroid-sparing immunosuppressive therapy. Early treatment may alter the natural history of disease. FINANCIAL DISCLOSURE(S):Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

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.

Background: To describe the clinical features and course of a series of survivors of retinoblastoma who developed a non-pineoblastoma second primary malignant neoplasm (SPMN). Methods: A retrospective review of patients treated for retinoblastoma who developed a SPMN was performed. The demographics, clinical features and treatments for retinoblastoma, pathologic types of SPMN, the 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 in this series had germline retinoblastoma. 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. Nine patients were still alive without active residual SPMN at the last follow-up. 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). Conclusion: A SPMN occurred in this series in 2.7% of retinoblastoma survivors, and all occurred in patients with germline retinoblastoma. All patients with SPMN who had been treated by EBRT developed the SPMN in the field of prior radiation.

PURPOSE:The purpose of this article was to describe 3 cases of chronic central serous chorioretinopathy (CSCR) in the pediatric patient population.METHODS:Retrospective case series.RESULTS:The authors report three pediatric patients with CSCR. All patients initially presented after failed vision screens or during routine office examinations. All patients presented with macula-involving subretinal fluid (SRF) and multimodal imaging features consistent with CSCR. At the last follow-up, one patient had minimal residual SRF, one patient had a small recurrence of SRF, and one patient had persistent SRF.CONCLUSION:Although CSCR classically occurs in adults, it can be seen in pediatric patients. Given the rarity of this condition in the pediatric population, CSCR may go undetected and underreported, with diagnosis resulting from failed vision screens.

Purpose:To describe an atypical case of a choroidal melanoma presenting with eyelid edema, chemosis, pain and diplopia and demonstrating significant extraocular extension on ultrasonography and neuroimaging.Observations:A 69-year-old woman presented with a headache, eyelid edema, chemosis and pain in the right eye. Upon subsequent onset of diplopia, MRI of the orbits was performed and demonstrated a predominantly extraocular, intraconal mass with a small intraocular component. She was started on corticosteroids and referred to the ocular oncology service for evaluation. On fundus examination, she was noted to have a pigmented choroidal lesion consistent with melanoma, and ultrasound showed a large area of extraocular extension. Enucleation, enucleation with subsequent radiation and exenteration were discussed, and the patient requested an opinion from radiation oncology. A repeat MRI obtained by radiation oncology demonstrated a decrease in the extraocular component after corticosteroid treatment. The improvement was interpreted as suggestive of lymphoma by the radiation oncologist who recommended external beam radiation (EBRT). Fine needle aspiration biopsy was insufficient for cytopathologic diagnosis, and the patient elected to proceed with EBRT in the absence of a definitive diagnosis. Next generation sequencing revealed GNA11 and SF3B1 mutations, which supported the diagnosis of uveal melanoma and led to enucleation.Conclusion and Importance:Choroidal melanoma may present with pain and orbital inflammation secondary to tumor necrosis, which may delay diagnosis and decrease the diagnostic yield of fine-needle aspiration biopsy. Next generation sequencing may aid the diagnosis of choroidal melanoma when there is clinical uncertainty and cytopathology is unavailable.

Background: 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. Case Presentation: We report an immunosuppressed patient presenting with asymmetrically bilateral acute onset, panuveitis with diffuse multifocal retinitis resulting from post-streptococcal uveitis syndrome. Conclusion: 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.

Purpose: To describe the surgical technique and long-term outcomes of a modified split-thickness corneal patch grafting for conjunctival erosions that can be seen in patients with the Port Delivery System (PDS) implant. Methods: By way of retrospective review of medical records, this interventional case series identified 2 cases in which modified split-thickness corneal patch grafting was used to repair conjunctival erosion in patients with the PDS implant. Results: The surgical approach involved creating a small opening in the corneal graft over the center of the PDS implant to improve visibility and allow for easier access during subsequent refill-exchange procedures. At the last follow-up of 6.9 years and 5.6 years, there was no recurrence of conjunctival erosions in either patient. The PDS implants remained well covered with the split-thickness corneal graft and had undergone multiple implant refills without complication or difficulty. Conclusions: Modified split-thickness corneal patch grafting with central graft aperture offers another option for long-term successful management of conjunctival erosions in patients with a PDS, especially those who have failed prior repair, by allowing sufficient visibility and access for subsequent refill-exchange procedures.

Purpose:The aim of the study was to describe choroidal detachments and concurrent scleritis associated with necrotic choroidal metastasis or melanoma.Methods:We conducted a retrospective case series.Results:We report 4 patients with scleritis and choroidal detachment with an underlying malignant choroidal tumor. All patients underwent fine-needle aspiration biopsy for cytopathologic characterization of their choroidal tumor, and they all demonstrated evidence of tumor necrosis. Two patients were diagnosed with choroidal metastasis from lung and esophageal adenocarcinoma. Both patients ultimately expired from systemic metastasis. The remaining 2 patients were diagnosed with choroidal melanoma and were successfully treated with plaque radiotherapy.Conclusion:Choroidal detachment with concurrent scleritis can occur as a rare sequelae of tumor necrosis of an underlying choroidal malignancy.

B.K.W. is a consultant for Allergan, Castle Biosciences, and Genentech. The remaining authors declare that they have no conflicts of interest to disclose.

PurposeTo report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR).Materials and MethodsA 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.ResultsTwo 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.ConclusionsThe 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.

Isolated choroidal melanocytosis is a rare condition that appears to be a limited form of ocular melanocytosis. Ocular melanocytosis has been known to be associated with an increased risk of uveal melanoma, and more recently, a similar association has been suggested for isolated choroidal melanocytosis. We describe 3 cases of patients who developed unilateral, multifocal uveal melanoma in the setting of underlying isolated choroidal melanocytosis. All patients developed either two distinct tumors at presentation or a new discrete choroidal melanoma arising from the choroidal melanocytosis over 1 year following treatment of the original tumor by plaque brachytherapy. These cases provide additional evidence of the association between isolated choroidal melanocytosis and uveal melanoma and suggest increased risk of multifocal melanoma in patients with this condition.

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the wnt signaling pathway leading to abnormalities in fetal retinal vasculogenesis, angiogenesis, and retinal vascular maintenance. Severe FEVR may result in congenital retinal detachment resembling Norrie disease. The authors report the first case of planned preterm delivery and treatment of a patient with severe FEVR from biallelic LRP5 mutations whose siblings had congenital tractional retinal detachments with light perception vision outcomes after conventional care. Early intervention allowed laser ablation of avascular retina and functional visual outcome despite a successfully repaired unilateral tractional retinal detachment. [Ophthalmic Surg Lasers Imaging Retina. 2022;53(4):228-232.].

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.

Terson syndrome typically presents with bilateral hemorrhagic retinopathy associated with acute intracranial bleeding. The authors present a case of neonatal hemispheric ischemic stroke with vasogenic edema and increased intracranial pressure creating a unilateral Terson-like syndrome. Magnetic resonance imaging indicated congenital occlusion of the left internal carotid artery, among other vascular abnormalities. Chronic submacular, peripheral subretinal, and vitreous hemorrhage were observed, suggesting a multilaminar hemorrhagic process resembling Terson syndrome without frank intracranial hemorrhage. The patient underwent successful lens-sparing vitrectomy of the left eye. A unilateral Terson-like syndrome can result from severe cerebral edema following neonatal stroke in the setting of multiple congenital cerebrovascular abnormalities. [ Ophthalmic Surg Lasers Imaging Retina. 2020;51:592–595.]

PURPOSE:To present a rare presentation of abusive head trauma (AHT) in an infant with a hereditary vitreoretinopathy.OBSERVATIONS:A two-month-old infant female victim of AHT presented with bilateral rhegmatogenous retinal detachments from giant retinal tears. She had rib fractures, a subdural hematoma, and hyphemas bilaterally. Retinal hemorrhages were not observed. The left eye was repaired by vitrectomy with intermediate-term perfluorocarbon liquid tamponade. Genetic testing demonstrated a pathogenic COL2A1 mutation confirming Stickler syndrome.CONCLUSIONS AND IMPORTANCE:Ophthalmic complications of AHT classically manifest as retinal hemorrhages in multiple layers. Instead, bilateral RRDs from GRTs were observed in this infant with Stickler syndrome.

The authors present the first case of central retinal artery occlusion (CRAO) resulting from moyamoya syndrome secondary to Southampton hemoglobinopathy. A 12-year-old Hispanic girl with a history of Southampton hemoglobinopathy with moyamoya syndrome presented with amaurosis fugax in her left eye that resolved within hours except for an inferior paracentral scotoma. She had left ophthalmic artery occlusion on magnetic resonance angiogram. Seven months later, spectral-domain optical coherence tomography showed diffuse inner retinal thinning. She was diagnosed with transient CRAO. The authors conclude that CRAO can result from moyamoya syndrome secondary to an underlying hemoglobinopathy. Multimodal imaging demonstrated residual inner retinal injury despite reperfusion. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e166-e170.].