Ultra-widefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).

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/or systemic corticosteroids. DESIGN: Retrospective consecutive case series. PARTICIPANTS: Ten patients under the age of 25 with ADNIV and available multimodal imaging. METHODS: The medical records of patients under the age of 25 with a diagnosis of ADNIV with ultra-widefield fluorescein angiography (UWFFA) and optical coherence tomography (OCT) data were reviewed. MAIN OUTCOME MEASURES: UWFFA and OCT findings at baseline and following local corticosteroids. RESULTS: Median age at presentation was 14 years (range 9-24 years). OCT on presentation demonstrated CME in 8/20 eyes and symptomatic vitreoretinal interface disease in 2/20 eyes. Initial UWFFA demonstrated retinal vascular leakage (20/20 eyes, 100%), peripheral non-perfusion (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: UWFFA 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.

Modified Split-Thickness Corneal Patch Graft for Conjunctival Erosions in Patients With the Port Delivery System Implant: Surgical Technique and Long-Term Outcomes.

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.

CHOROIDAL NEOVASCULAR MEMBRANE ASSOCIATED WITH CHOROIDAL LYMPHOMA.

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.

Large extraocular extension of a choroidal melanoma with orbital inflammation.

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.

Serous Choroidal Detachment and Scleritis Associated with Necrotic Choroidal Tumors.

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.

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

PURPOSE: To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR). MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Multimodal Imaging of Panuveitis with Multifocal Retinitis Resulting from Post-Streptococcal Uveitis Syndrome.

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.

Unilateral Multifocal Choroidal Melanoma with Underlying Isolated Choroidal Melanocytosis.

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.

Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.

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.].

Chronic Central Serous Chorioretinopathy in the Pediatric Population: A Case Series.

PURPOSE: To describe 3 cases of chronic central serous chorioretinopathy (CSCR) in the pediatric patient population. METHODS: Retrospective case series. RESULTS: We report three pediatric patients with CSCR. All patients initially presented following failed vision screens or during routine office examinations. All patients presented with macula-involving subretinal fluid and multimodal imaging features consistent with chronic central serous chorioretinopathy. At last-follow-up, 1 patient had minimal residual subretinal fluid, 1 patient had a small recurrence of subretinal fluid, and 1 patient had persistent subretinal fluid. CONCLUSIONS: While 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.

Unilateral Terson-Like Syndrome in a Patient With a Perinatal Ischemic Stroke.

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.].

Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome.

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.

CRAO in Moyamoya Syndrome Associated With Southampton Hemoglobinopathy.

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.].