Faricimab in Previously Treated Eyes With Neovascular Age-Related Macular Degeneration: An Assessment of Durability and Treatment Outcomes.

BACKGROUND AND OBJECTIVE: This study evaluated the efficacy and durability of faricimab in patients with neovascular age-related macular degeneration (nAMD) who were previously treated with anti-vascular endothelial growth factor (anti-VEGF) agents. PATIENTS AND METHODS: This retrospective case series was conducted at a single tertiary center in the United States. It focused on nAMD patients who transitioned to faricimab after initial anti-VEGF therapy, with a follow-up period of at least 9 months. "Complete dryness" was defined as the absence of intra- and/or subretinal fluid on optical coherence tomography. Durability was gauged by the extension of treatment intervals relative to the injection frequency of the previous agent. RESULTS: Sixty-two eyes from 62 patients were included. Treatment interval ranged from 5 to 10 weeks; 10 (16%) patients were able to be extended by 2 or more weeks compared to their previous regimen. Median (interquartile range [IQR]) central field thickness was 310 µm (254, 376) on initiating faricimab and declined by the ninth month (P values at 3, 6, and 9 months were 0.01, 0.02, and 0.07, respectively). Median (IQR) visual acuity at initiation of faricimab was 0.4 (0.20, 0.50) and did not change by the ninth month. Complete anatomical dryness was present in 10 (16%) eyes before switching; 90% remained dry at 9 months. Of 52 (84%) incompletely dry eyes before switching, 15% achieved complete dryness by 9 months on faricimab. CONCLUSIONS: Faricimab modestly improved the treatment intervals for a small proportion of previously treated patients on anti-VEGF therapy. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].

Vitreous metastasis from cutaneous melanoma: diagnosis and management / Metástase vítrea de melanoma cutâneo: diagnóstico e tratamento

ABSTRACT Purpose: To report the clinical findings, treatments, and outcomes in a series of patients with vitreous metastasis from cutaneous melanoma. Methods: This single-center, retrospective, interventional case series included patients with biopsy-confirmed vitreous metastasis from cutaneous melanoma diagnosed between 1997 and 2020. Standard 23- or 25-gauge pars plana vitrectomy was performed for diagnostic sampling. Sclerotomies were treated with double or triple freeze-thaw cryotherapy. Perioperative intravitreal injections of melphalan (32 µg/0.075 mL) were administered, when indicated. Visual acuity, intraocular pressure, and systemic and ocular treatment responses were reported. Results: Five eyes of five patients with unilateral vitreous metastasis from cutaneous melanoma were identified. The median age at diagnosis was 84 (range, 37-88) years. The median follow-up after ophthalmic diagnosis was 28 (8.5-36) months; one patient did not have a follow-up. The initial visual acuity ranged from 20/30 to hand motions. Baseline clinical findings included pigmented or non-pigmented cellular infiltration of the vitreous (5/5), anterior segment (4/5), and retina (3/5). Four patients had secondary glaucoma. Systemic therapy included checkpoint inhibitor immunotherapy (n=3, all with partial/complete response), systemic chemotherapy (n=2), surgical resection (n=3), and radiation (n=2). The median time from primary diagnosis to vitreous metastasis was 2 (2-15) years. One patient had an active systemic disease at the time of vitreous metastasis. The final visual acuity ranged from 20/40 to no light perception. Ophthalmic treatment included vitrectomy in all five patients, intravitreal administration of melphalan in three, and intravitreal administration of methotrexate in one. One patient required enucleation, and histopathology revealed extensive invasion by melanoma cells. Conclusions: Vitreous metastasis from cutaneous melanoma can present as a diffuse infiltration of pigmented or non-pigmented cells into the vitreous and may be misdiagnosed as uveitis. Diagnostic pars plana vitrectomy and periodic intravitreal chemotherapy may be indicated.

RESUMO Objetivo: Descrever os achados clínicos, tratamentos, e desfechos em uma série de pacientes com me tástases vítreas de melanoma cutâneo. Métodos: Série retrospectiva de casos de único centro com intervenção. Pacientes incluídos tiveram seu diagnóstico de MVMC confirmado por biópsia entre 1997 e 2020. Vitrectomia via pars plana com 23 ou 25 gauge foram realizadas para obter espécimens. Esclerotomias foram tratadas com crioterapia em duplo ou triplo congelamento. Injeção intravítrea perioperatória de melfalano (32 ug/0,075 mL) foi administrada quando necessário. Foram relatados acuidade visual, pressão intraocular, resposta terapêutica sistêmica e ocular. Resultados: Cinco olhos de 5 pacientes com metástases vítreas de melanoma cutâneo unilateral foram identificados. Idade média de diagnóstico foi 84 anos (variando de 37-88). Seguimento médio após diagnóstico oftalmológico foi 28 (8,5-36) meses; 1 paciente não teve acompanhamento. Acuidade visual inicial variou de 20/30 a movimentos de mão. Achados clínicos iniciais incluíram infiltração de células pigmentadas e não-pigmentadas no vítreo (5/5), segmento anterior (4/5), e retina (3/5). Quatro pacientes tiveram glaucoma secundário. Tratamento sistêmico incluiu imunoterapia com inibidores da via de sinalização (3 - todos com resposta parcial/completa), quimioterapia sistêmica (2), ressecção cirúrgica (3), e irradiação (2). Intervalo médio entre diagnóstico primário e metástases vítreas foi 2 (2-15) anos. Um paciente teve doença sistêmica ativa simultânea as metástases vítreas. Acuidade visual final variou entre 20/40 e SPL. Tratamento oftalmológico incluiu vitrectomia nos 5 pacientes, melfalano intravítreo em 3 e metotrexato intravítreo em 1. Um paciente precisou de enucleação. A histopatologia revelou invasão celular extensa de melanoma. Conclusões: Metástases vítreas de melanoma cutâneo pode se manifestar como uma infiltração difusa de células pigmentadas e não-pigmentadas no vítreo e erroneamente diagnosticada como uveites. Vitrectomia diagnóstica e quimioterapia intravítrea periódica podem estar indicadas.

Patients With Dragged Optic Disc Vessels and Retinal Folds: Clinical Features, Multimodal Imaging, and Histopathology.

BACKGROUND AND OBJECTIVE: To describe the multimodal imaging and histopathological features of patients with dragged optic disc vessels (DODV). PATIENTS AND METHODS: This is a retrospective, observational analysis using multimodal imaging of eyes with DODV in patients with retinal vascular diseases including familial exudative vitreoretinopathy, inflammatory disease, and others. In addition, two additional enucleated eyes with DODV underwent histopathological analysis. RESULTS: Of the 13 patients, eight were girls and five were boys. Mean age was 5 years (ranging from 4 months to 10 years old). Of the 15 eyes, 12 (80%) demonstrated temporal dragging and three (20%) had nasal dragging. Retinal vascular abnormalities were present in 11 of the fellow eyes. Multimodal imaging demonstrated features of DODV including direction of traction, outer retinal thickening, increased flow, and other features. Only two (13.3%) eyes required surgical intervention. Mean follow-up was 14 (range 3 to 30 months) months. At last follow-up all eyes remained stable. Last visual acuity ranged from 20/100 to counting fingers. As well, two enucleated globes of adults with retinopathy of prematurity underwent histopathologic evaluation, showing optic nerve fibers that extended from the optic nerve into the DODV. CONCLUSIONS: DODV is a sign of various late-stage retinal vascular diseases, associated with poor visual function. Multimodal imaging and histopathology can assist in understanding the disease pathology. [Ophthalmic Surg Lasers Imaging Retina 2023;54:634-642.].

Clinical Outcome of Cystoid Macular Edema in Silicone Oil-Filled Eyes.

Purpose: To investigate the clinical outcome of cystoid macular edema (CME) in eyes undergoing silicone oil (SO) tamponade with subsequent SO removal (SOR). Methods: A retrospective case series of adult patients with CME treated with SO tamponade and SOR was conducted between January 2015 and January 2021. Exclusion criteria included eyes with a prior SO tamponade, those that did not undergo SOR, or those with infectious/inflammatory diagnoses. The primary outcomes were the incidence and resolution rates of CME in eyes with SO tamponade that had undergone SOR. The secondary outcomes included changes in best-corrected visual acuity (BCVA) and central field thickness (CFT). Results: Nineteen eyes of 19 patients (58% men) aged 52 years (interquartile range [IQR], 45-66 years) met the study inclusion criteria. The median (IQR) follow-up duration post SOR was 22 (8-35) months. The mean CFT decline for the CME-resolved cases was 13.1 µm/mo (P = .257). CME resolved in only 10 eyes (53%), 7 (67%) of which occurred after SOR. The median (IQR) BCVA was 20/400 (20/200 to 20/1262) at CME diagnosis and 20/796 (20/252 to hand motions) after SOR, with 0.184 worsening in logMAR BCVA (P = .340). Medical treatment was not associated with CME resolution compared with observation (50% vs 89%, respectively; P = .069). Eyes with proliferative vitreoretinopathy (PVR) had a higher rate of persistent CME compared with eyes with other diagnoses (78% vs 10%, respectively; P = .005). Conclusions: Nearly half had nonresolution of CME after SO was removed. The VA at the last follow-up was unaffected by CME resolution. Preoperative PVR may be a risk factor for unresolved CME.

Familial Exudative Vitreoretinopathy-Like Phenotype in a Patient With Microcephaly and TUBGCP6 Mutations.

Purpose: To describe a case of microcephaly, unilateral retinal fold, and familial exudative vitreoretinopathy (FEVR)-like phenotype in the context of 2 TUBGCP6 variants. Methods: A case and its findings were analyzed. Results: A 4-month-old boy with no family history of eye disease presented by referral for management of presumed persistent fetal vasculature in the left eye. An external examination showed microcephaly. The patient grimaced to light in both eyes, and the anterior segments were unremarkable. On dilated fundus examination, diffuse chorioretinal atrophy was present bilaterally. In the left eye, a retinal fold emanated from the optic nerve head. There was early termination of retinal vasculature, especially in zone 3 in the left eye, resembling a FEVR-like phenotype. Panel-based genetic testing was performed and found 2 mutations in TUBGCP6. Conclusions: Microcephaly, chorioretinopathy, and retinal folds may be associated with TUBGCP6 mutations and masquerade as PFV.

Monitoring Delayed Toxoplasmosis-Related Branch Retinal Artery Occlusion Using Widefield en face Optical Coherence Tomography and Multimodal Imaging.

Ocular toxoplasmosis has a known, rare association with acute retinal artery occlusion (RAO). We describe a 21-year-old male who presented with acute focal toxoplasmosis chorioretinitis in the right eye treated with intravitreal clindamycin, intravitreal dexamethasone, and adjunct oral therapy for vision-threatening retinitis with subsequent quiescence. Nine months from his initial presentation, the patient presented with a branch RAO adjacent to an inactive retinal scar in the right eye. Widefield en face structural swept-source optical coherence tomography (SS-OCT) centered on the middle retina showed paracentral acute middle maculopathy (PAMM) in an arteriolar distribution. The patient was started on 81 mg of aspirin daily. Six months later, the en face structural SS-OCT and corresponding B-scans showed resolution of PAMM. Along with a review of the literature on toxoplasmosis-related RAOs, we present the first case of delayed-onset RAO in ocular toxoplasmosis.

NATIONWIDE DEMOGRAPHIC DISPARITIES IN UNITED STATES EMERGENCY DEPARTMENT VISITS IN PATIENTS WITH RHEGMATOGENOUS RETINAL DETACHMENT.

BACKGROUND/PURPOSE: Within the evolving landscape of healthcare in the United States (US), delineating the demographic nuances and financial implications of emergent conditions, such as rhegmatogenous retinal detachment (RRD), is paramount. This study seeks to analyze the demographic and hospital billing amount/cost of service disparities in RRD visits to emergency departments (EDs) nationwide. METHODS: We conducted a retrospective, cross-sectional, population-based study using International Classification of Diseases, 10th revision , and Current Procedural Terminology codes in the 2016 to 2019 Nationwide Emergency Department Sample databases to identify RRD visits. The analysis included demographics, hospital billing amount, and cost of service of RRD ED management. RESULTS: A total of 12,492 RRD encounters were identified with men constituting 64% and a prominent age group being 50 to 64 years (49.3%). Most patients (90%) were managed in metropolitan teaching hospitals, predominantly in the southern U.S. region (56.1%). Private insurance covered 45% of patients. Same-day RRD repair odds increased in November and December. Whites had a higher likelihood for same-day treatment. Hospital billing amount rose from $23,600 in 2016 to $30,354 in 2019, with stable mean total cost of service. Rhegmatogenous retinal detachment ED visit incidence did not show seasonal variation ( P = 0.819). CONCLUSION: Most patients with RRD in U.S, EDs were middle-aged men, with Whites more likely to receive same-day repair. There was no sex bias observed in same-day repair decision-making. Although hospital billing amount increased over the study period, total cost of service remained stable. The incidence of RRD ED visits showed no seasonal variation.

Orbital Gas after 25-Gauge Pars Plana Vitrectomy with Incorrect Gas Mixture.

We present 2 cases of sutureless 25-gauge pars plana vitrectomy and fluid-gas exchange, in which incorrect gas concentrations likely led to elevated intraocular pressures and retrobulbar gas. Combined removal of orbital gas with anterior orbitotomy and pars plana vitrectomy was performed in the first case to address expanding intraocular and retrobulbar gas resulting from a suspected error in gas dilution. Vitreous and orbital gas removal by needling was effective in the second case. In patients with elevated intraocular pressure and orbital gas accumulation after vitrectomy, combined intraocular and orbital decompressions were effective in optimizing clinical outcomes. There is no consensus regarding the best management of orbital gas after vitrectomy. We propose that a multidisciplinary technique should be considered, when available.

Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration.

INTRODUCTION: An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the left eye. METHODS: Genetic studies disclosed a heterozygous pathogenic variant in the KCNJ13 gene was identified (c.484C>T (p.Arg162Trp)), consistent with a diagnosis of snowflake vitreoretinal degeneration (SVD). RESULTS: While there were no corneal guttata, juvenile cataracts, or perivascular sheathing in this case, salient features of SVD included a fibrillar vitreous structure, crystalline retinopathy, and flattened optic nerves. The patient developed a FTMH in the left eye at 17 months follow up, followed by a rhegmatogenous retinal detachment (RRD) requiring 2 surgical repairs. CONCLUSION: This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies.

MULTIMODAL IMAGING OF BILATERAL IDIOPATHIC MULTIFOCAL RETINAL PIGMENT EPITHELIAL DETACHMENTS IN YOUNG PATIENTS.

PURPOSE: The aim of this study was to describe two cases of multiple epithelial detachments (pigment epithelial detachments [PEDs]) occurring in otherwise young, healthy patients. METHODS: The medical and imaging records of two cases were reviewed retrospectively. RESULTS: Multiple serous nonvascularized PEDs were present in two young, healthy patients who underwent multimodal imaging. The first patient, a 38-year-old woman, was incidentally found to have a visual acuity of 20/20 in both eyes and multiple bilateral PEDs. Imaging and a systemic work-up was negative for secondary causes, and at 36 months, vision remained stable although some of the PEDs had coalesced. The second patient, a 32-year-old woman, presented with distortion and perceived scotomas in both eyes progressive over the course of 2 years. The visual acuity was 20/20, and multimodal imaging confirmed the presence of bilateral PEDs. CONCLUSION: Bilateral idiopathic multifocal retinal PEDs in otherwise healthy young adults is a rare condition. Longer term follow-up is needed to evaluate secondary complications and visual outcomes.

IRIS METASTASIS FROM BREAST CANCER SUCCESSFULLY TREATED WITH ABEMACICLIB AND LETROZOLE.

PURPOSE: To describe a patient with an unusual presentation of iris metastasis from breast cancer and her response to systemic therapy. METHODS: Retrospective chart review of one patient. RESULTS: A 57-year-old woman presented with a superonasal translucent vascularized iris stromal mass with fish egg-like structures budding from the surface. High-frequency anterior segment ultrasonography demonstrated a solid iris stromal mass measuring 6.0 mm × 3.3 mm × 1.9 mm. On optical coherence tomography, the egglike structures appeared as hyperreflective spheres, some of which were detached from the main iris stromal tumor. Oncologic evaluation revealed metastatic breast cancer involving the brain and lung. She was treated with oral abemaciclib and letrozole, as well as external beam radiotherapy to the brain. The iris mass had completely regressed within 4 months and remained undetectable through the 8-month follow-up. The other metastatic lesions responded well to therapy. CONCLUSION: A case of iris metastasis was reported as the presenting sign of cancer dissemination that was successfully treated with targeted systemic therapy without ocular radiotherapy.

Multimodal imaging in the diagnosis and management of ophthalmia nodosa.

Purpose: Ophthalmia nodosa (ON) is a rare but important disease describing ocular inflammation caused by injury from insect hairs ("setae"). Type V ON occurs when there is vitreoretinal involvement. Treatment with systemic steroids are first-line, but vitrectomy is indicated in resistant cases. The purpose of this study was to illustrate how multimodal imaging can facilitate diagnosis and management of ON. Observations: This is a single retrospective case report of a patient who presented to Bascom Palmer Eye Institute with Type V ON. Multimodal imaging in a patient with Type V ON was illustrated. A moth seta was localized to the anterior vitreous cavity. Intraocular inflammation responded to 2 weeks of high-dose oral prednisone. Conclusions and Importance: Multimodal imaging may guide diagnosis and management of ON by documenting baseline features of ON and facilitating comparison at follow up visits. This allows for safe non-surgical management of Type V ON. Long-term follow up would be necessary to determine whether subsequent surgical intervention was needed in this case.

Cyst-like recurrence of retinoblastoma diagnosed by multimodal imaging.

Purpose: To illustrate the diagnosis and management of an atypical, cyst-like recurrence of retinoblastoma. Observations: A 4-month-old boy was diagnosed with Group B retinoblastoma in the right eye, consisting of a 10 x 9 × 3.6 mm retinal tumor temporal to the macula. He was treated with one session of intra-arterial ophthalmic artery chemotherapy using melphalan, followed by three sessions of diode laser transpupillary thermotherapy (TTT), after which complete tumor regression was achieved. 45 weeks after initial treatment, a cystic lesion was detected adjacent to superior margin of the regressed tumor scar. The differential diagnosis included pigment epithelial detachment, retinal gliosis, secondary retinoschisis, and local tumor recurrence. Multimodal imaging including OCT angiography confirmed the diagnosis of local recurrence manifesting as a vascularized cyst-like lesion. Two additional sessions of TTT achieved sustained tumor regression through 16 months of additional follow-up. Conclusions and Importance: Recurrence of retinoblastoma following chemotherapy typically manifests as enlargement of a previously regressed tumor, or seeding into the vitreous or subretinal space. An unusual cyst-like recurrence of retinoblastoma at the margin of a previously regressed tumor was diagnosed by multimodal imaging. Focal diode laser transpupillary thermotherapy was curative.

Endophthalmitis Caused by Kocuria Kristinae.

Kocuria is an anaerobic, Gram-positive bacterium, which has been rarely reported to cause endophthalmitis following cataract surgery, intravitreal injections, penetrating ocular trauma, and also secondary to endogenous sources. Visual prognosis is often guarded, with no previous cases reporting a final visual acuity better than 20/60. We describe a young female patient who developed culture-proven Kocuria kristinae endophthalmitis associated with a traumatic scleral rupture. Visual acuity at 2 months of follow-up improved from light perception to 20/50 after treatment with intravitreal antimicrobial therapy and pars plana vitrectomy.

Retinal Folds as a Clinical Feature of X-Linked Retinoschisis: A Series of Three Cases.

BACKGROUND AND OBJECTIVE: The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS. PATIENTS AND METHODS: This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging. RESULTS: Three patients with XLRS were found to have retinal folds, including a newly characterized "retinal scroll" seen on examination and multimodality imaging. CONCLUSIONS: The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management. [Ophthalmic Surg Lasers Imaging 2022;53(6):326-331.].

EVALUATION OF RETINAL DISPLACEMENT FOLLOWING PRIMARY SCLERAL BUCKLING FOR MACULA-INVOLVING RHEGMATOGENOUS RETINAL DETACHMENT.

PURPOSE: To evaluate the incidence and degree of retinal displacement following scleral buckling surgery for macula-involving rhegmatogenous retinal detachment. METHODS: Retrospective interventional case series comprised of patients treated with primary scleral buckling procedure without gas tamponade for macula-involving rhegmatogenous retinal detachment and imaged postoperatively with fundus autofluorescence imaging between June 1, 2016 and July 25, 2021. Clinical notes, operative reports, fundus autofluorescence photographs, and optical coherence tomography images were reviewed. The presence and degree of retinal displacement were recorded. RESULTS: Twelve eyes of 11 patients were included. One (8%) eye with an epiretinal membrane demonstrated 0.1 mm of retinal displacement along the superior arcade and in the superotemporal periphery. The remainder of eyes (92%) did not show any identifiable signs of retinal displacement. CONCLUSION: Retinal displacement does not seem to be a frequent complication of primary scleral buckling surgery for macula-involving rhegmatogenous retinal detachment.

Hemi- and Central Retinal Vein Occlusion Associated with COVID-19 Infection in Young Patients without Known Risk Factors.

PURPOSE: Venous thromboembolic complications have been reported in association with coronavirus disease 2019 (COVID-19) infection. We raised awareness regarding a potential temporal association between COVID-19 infection and retinal vein occlusion (RVO). DESIGN: Multicenter, retrospective, nonconsecutive case series. SUBJECTS: Patients presenting with hemi-RVO (HRVO) or central RVO (CRVO) between March 2020 and March 2021, with confirmed COVID-19 infection, were included. The exclusion criteria were as follows: age >50 years, hypertension, diabetes, glaucoma, obesity, underlying hypercoagulable states, and those requiring intubation during hospitalization. METHODS: This was a multicenter, retrospective, nonconsecutive case series including patients presenting with hemi-RVO (HRVO) or central RVO (CRVO) between March 2020 and March 2021, with confirmed COVID-19 infection. The exclusion criteria were as follows: age >50 years, hypertension, diabetes, glaucoma, obesity, underlying hypercoagulable states, and those requiring intubation during hospitalization. MAIN OUTCOME MEASURES: Ophthalmic findings, including presenting and final visual acuity (VA), imaging findings, and clinical course. RESULTS: Twelve eyes of 12 patients with CRVO (9 of 12) or HRVO (3 of 12) after COVID-19 infection were included. The median age was 32 years (range, 18-50 years). Three patients were hospitalized, but none were intubated. The median time from COVID-19 diagnosis to ophthalmic symptoms was 6.9 weeks. The presenting VA ranged from 20/20 to counting fingers, with over half (7 of 12) having a VA of ≥20/40. OCT revealed macular edema in 42% of the eyes; of these, 80% (4 of 5) were treated with anti-VEGF injections. Ninety-two percent (11 of 12) had partial or complete resolution of ocular findings at final follow-up. Four eyes (33%) had retinal thinning, as determined using OCT, by the end of the study interval. The final VA ranged from 20/20 to 20/60, with 11 of the 12 (92%) eyes achieving a VA of ≥20/40 at a median final follow-up period of 13 weeks (range, 4-52 weeks). CONCLUSIONS: Although we acknowledge the high seroprevalence of COVID-19 and that a causal relationship cannot be established, we reported this series to raise awareness regarding the potential risk of retinal vascular events due to a heightened thromboinflammatory state associated with COVID-19 infection.

Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.

PURPOSE: To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectodermal syndrome (OES). OBSERVATIONS: Two cases of ACC/OES with characteristic echographic evidence of choroidal calcifications are described. CONCLUSIONS AND IMPORTANCE: The ophthalmic manifestations of ACC/OES may be expanded to include choroidal calcifications. The presence of a choroidal calcification with B-scan ultrasound in a case suspicious for ACC/OES may facilitate a more timely diagnosis and inform future follow-up regimens to monitor ophthalmic and systemic manifestations of this disease.

Genetics and optical coherence tomography features in a child with an achromatic retinal patch.

BACKGROUND: Achromatic retinal patch is associated with tuberous sclerosis. Its role as a diagnostic feature is often overlooked. MATERIALS AND METHODS: A clinical case was retrospectively reviewed and reported. RESULTS: A 5-year-old male with a history of seizure disorder and a germline TSC2 variant was found to have a hypopigmented lesion in the nasal macula, most consistent with an achromatic retinal patch. The optical coherence tomography features of the retinal finding is illustrated. CONCLUSIONS: We highlight the importance of performing a retinal exam and genetic testing in cases that do not otherwise meet the clinical diagnostic criteria for tuberous sclerosis. The significance of an achromatic retinal patch in the setting of a TSC gene mutation of unclear pathogenic potential remains unknown.

Paradoxical Exudative Retinopathy and Macular Star Formation After Treatment Initiation in Coats Disease.

Purpose: This work describes a unique clinical feature in Coats disease. Methods: A retrospective series of 2 cases is reported. Results: Two pediatric patients receiving treatment for Coats disease were included. In both cases, vision worsened secondary to paradoxically increased exudation and macular star formation following standard treatment with intravitreal bevacizumab, sub-Tenon triamcinolone acetonide, and laser photocoagulation. After serial treatments under general anesthesia, the exudates in both cases consolidated. Conclusions: A paradoxical exudative retinopathy can occur in some patients when initiating standard treatment of Coats disease. Longitudinal follow-up with continued intravitreal antivascular endothelial growth factor agents, laser photocoagulation, and corticosteroids might help control persistent exudation in these cases.