Diffuse infiltrating retinoblastoma is an extremely rare form of retinoblastoma which is characterized by its atypical growth pattern. This unusual presentation adds complexity to the diagnostic process. The purpose of this paper is to report a rare presentation of diffuse infiltrating retinoblastoma presenting after an ocular trauma. We described a 7-year-old Filipino boy presenting with total hyphema following an ocular trauma. Comprehensive ophthalmologic clinical and diagnostic evaluations were performed including visual acuity, slitlamp biomicroscopy, ocular ultrasound, neuroimaging, and histopathology post enucleation to determine diagnosis. The misleading, atypical presentation of diffuse infiltrating retinoblastoma may delay diagnosis. While this dilemma is expected in these scenarios, it should be remembered that timing of diagnosis in retinoblastoma is crucial, as this also equates to optimal management. One should remain vigilant for these uncommon presentations especially in the setting of any intraocular inflammation in children.

Human ; Male ; Child: 6-12 Yrs Old ; Wounds And Injuries ; Visual Acuity ; Retinoblastoma ; Research Report ; Neuroimaging ; Inflammation ; Hyphema ; Contusions

OBJECTIVE: To explore the clinical characteristics and genetic cause of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) and to review the literature. METHODS: Clinical data of a child with gastrointestinal hemorrhage with CRMCC admitted to the Hepatology Department of Hunan Children's Hospital in September 2019 were collected, and peripheral blood DNA of the child and his parents were analyzed by whole exome sequencing. Candidate variants were validated by Sanger sequencing, followed by bioinformatics analysis, American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants pathogenicity classification, and protein structure prediction. A literature search with "Coats Plus syndrome" or "Cerebroretinal microangiopathy with calcifications and cysts" as keywords was conducted at PubMed, China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to December 2023). This study has been approved by the Ethics Committee of Hunan Children's Hospital (Ethics No. KY2020-07). Informed consent for clinical research was obtained from the guardian of the child. RESULTS: The proband was a 10-year-10-month-old boy. The clinical manifestations were intrauterine and postnatal growth retardation, gastrointestinal hemorrhage, liver fibrosis, panhemopenia, bilateral exudative retinopathy, intracranial lesions and facial pigmentation. WES and Sanger sequencing revealed two novel heterozygous variants in the CTC1 gene: c.787G>A (p.Val263Met) in exon 5 and c.2930C>G (p.Ser977Cys) in exon 17, which were inherited from his mother and father, respectively. According to ACMG pathogenicity classification, both missense variants were classified as variants of uncertain significance (VUS). Protein structure prediction showed the absence of LIG_SH3_3 motif and LIG_SH3_3 motif, and the p.Ser977Cys mutation may affect the binding between CST (CTC1-STN1-TEN) complex and DNA strand. The child had continued to experience recurrent gastrointestinal bleeding episodes despite propranolol treatment, but the condition was controlled after liver transplantation. According to the predefined literature search strategy of this study, a total of 10 relevant articles on pediatric CRMCC patients were retrieved, involving 11 children with gastrointestinal bleeding. Pharmacological and endoscopic therapies play a certain role in the management of CRMCC children complicated with gastrointestinal bleeding. CONCLUSION The CTC1 gene c.787G>A and c.2930C>G variants probably underlay CRMCC in this child. This study has broadened the variation spectrum of CTC1-related diseases and provided a basis for genetic counseling. Liver transplantation may be an important treatment for gastrointestinal hemorrhage in children who do not respond well to medication and endoscopic therapy.
Humans ; Male ; Gastrointestinal Hemorrhage/genetics* ; Child ; Calcinosis/genetics* ; Cysts/genetics* ; Central Nervous System Cysts/genetics* ; Mutation ; Exome Sequencing ; Leukoencephalopathies ; Retinal Diseases ; Seizures ; Muscle Spasticity ; Brain Neoplasms ; Ataxia

OBJECTIVE

To identify retinal lesions through ultrawide field (UWF) images and correlate their presence, size, location, and number with the immunologic status of individuals living with human immunodeficiency virus (HIV)

METHODS

This retrospective study reviewed UWF retinal images and CD4 counts of adult patients diagnosed with HIV. ImageJ software was used to annotate lesions and create heat maps. The distribution of lesions (hemorrhages, cotton wool spots, cytomegalovirus [CMV] lesions) was evaluated across 3 retinal zones: posterior pole, mid-periphery and far periphery. Statistical analyses were conducted using SAS version 9.4.

RESULTS

The study included 44 eyes of 23 male HIV patients, with a mean age of 35 ± 9.3 years, and a mean CD4 count of 74 ± 145 cells/mm³. HIV retinopathy was present in 24 (54.5%) eyes and CMV retinitis in 6 (13.6%) eyes. Among eyes with HIV-related findings (N=30), 8 (26.7%) had hemorrhages, 19 (63.3%) had cotton wool spots, and 7 (23.3%) had both. Eyes with HIV retinopathy had significantly low CD4 counts (17 vs. 25 cells/mm³, p=0.0398), and eyes with CMV retinitis had even lower CD4 counts (9 vs. 22 cells/mm³, p=0.0133). Lesion annotations showed that the mean area covered by hemorrhages was 0.47 mm² (97.9% in the posterior pole), cotton wool spots was 0.73 mm² (96.0% in the posterior pole), and CMV lesions was 22.89 mm² (37.9% in the posterior pole, 35.9% in the mid-periphery, and 26.1% in the far periphery).

CONCLUSION

HIV retinopathy findings are predominantly located within 10 mm of the foveal center, while over 62% of CMV lesions are present outside this zone. This highlights the importance of evaluating the retinal periphery in high-risk patients. Regular monitoring using UWF imaging is recommended for HIV-infected individuals with low CD4 counts, to detect vision-threatening conditions like CMV retinitis.

Human ; Hiv ; Retinal Hemorrhage

PURPOSE: To report a case of retinal toxicity after an intravitreal ganciclovir injection to treat acute retinal necrosis in an eye filled with silicone oil.CASE SUMMARY: A 56-year-old male presented with ocular pain and visual loss in his right eye. His best-corrected visual acuity was 20/25, inflammatory cells in the anterior chamber, multiple retinitis lesions and retinal vessel occlusions in the peripheral retina and vitreous opacity were showed. Acute retinal necrosis was suspected, anterior chamber polymerase chain reaction (PCR) test was done. Aciclovir 2,400 mg/day intravenously and ganciclovir 2.0 mg were administered by intravitreal injection. After 4 days, retinitis was worsened and PCR test was positive for varicella zoster virus. Ganciclovir intravitreal injections were increased twice a week. After 16 days, retinal detachment occurred, so scleral encircling, vitrectomy, laser photocoagulation, and silicone oil tamponade were conducted. Ganciclovir 1.0 mg was injected at the end of surgery. The patient's visual acuity decreased to hand motion, and multiple crystal deposits with multiple retinal hemorrhages were observed in the right eye the next day. Visual acuity did not recover and optical coherent tomography showed that the macula was thinned.CONCLUSIONS: Visual loss seemed to be related with the retinal toxicity of ganciclovir. The increased local concentration due to the silicone oil tamponade is thought to have caused the toxicity.
Acyclovir ; Anterior Chamber ; Ganciclovir ; Hand ; Herpesvirus 3, Human ; Humans ; Intravitreal Injections ; Light Coagulation ; Male ; Middle Aged ; Polymerase Chain Reaction ; Retina ; Retinal Detachment ; Retinal Hemorrhage ; Retinal Necrosis Syndrome, Acute ; Retinal Vessels ; Retinaldehyde ; Retinitis ; Silicon ; Silicones ; Visual Acuity ; Vitrectomy

A 35-year-old female visited emergency department for a sudden onset of headache with vomiting after management for abortion at local department. Neurological examination revealed drowsy mentality without focal neurological deficits. CT showed 3.2×3.4 cm hyperdense intraventricular mass with intraventricular hemorrhage. The intraventricular hemorrhage was found in lateral, 3rd, and 4th ventricles. MRI showed well enhancing intraventricular mass abutting choroid plexus in the trigone of the right lateral ventricle. CT angiography showed tortuous prominent arteries from choroidal artery in tumor. Her neurological status deteriorated to stupor and contralateral hemiparesis during planned preoperative workup. Urgent transtemporal and transcortical approach with decompressive craniectomy for removal of intraventricular meningioma with hemorrhage was done. Grossly total removal of ventricular mass was achieved. Pathological finding was meningotheliomatous meningioma of World Health Organization (WHO) grade I. The patient recovered to alert mentality and no motor deficit after intensive care for increased intracranial pressure. However, visual field defect was developed due to posterior cerebral artery territory infarction. The visual deficit did not resolve during follow up period. Lateral ventricular meningioma with spontaneous intraventricular hemorrhage in pregnant woman is very uncommon. We report a surgical case of lateral ventricular meningioma with rapid neurological deterioration for intraventricular hemorrhage.
Adult ; Angiography ; Arteries ; Choroid ; Choroid Plexus ; Critical Care ; Decompressive Craniectomy ; Emergency Service, Hospital ; Female ; Follow-Up Studies ; Fourth Ventricle ; Headache ; Hemorrhage ; Humans ; Infarction ; Intracranial Pressure ; Lateral Ventricles ; Magnetic Resonance Imaging ; Meningioma ; Neurologic Examination ; Paresis ; Posterior Cerebral Artery ; Pregnancy ; Pregnant Women ; Stupor ; Visual Fields ; Vomiting ; World Health Organization

BACKGROUND: To investigate the effects of dipeptidyl peptidase-4 inhibitor (DPP4i) as add-on medications to metformin on progression of diabetic retinopathy (DR) in patients with type 2 diabetes mellitus, compared with sulfonylurea (SU) or thiazolidinedione (TZD). METHODS: We identified 4,447 patients with DPP4i, 6,136 with SU, and 617 with TZD in addition to metformin therapy from the database of Korean National Health Insurance Service between January 2013 and December 2015. Cox proportional hazards regression models were used to calculate hazard ratios (HRs) for DR progression. The progression of DR was defined by the procedure code of panretinal photocoagulation, intravitreal injection or vitrectomy; or the addition of diagnostic code of vitreous hemorrhage, retinal detachment, or neovascular glaucoma. RESULTS: The age and sex-adjusted HR of DR progression was 0.74 for DPP4i add-on group compared with SU add-on group (95% confidence interval [CI], 0.62 to 0.89). This lower risk of DR progression remained significant after additional adjustments for comorbidities, duration of metformin therapy, intravitreal injections and calendar index year (HR, 0.80; 95% CI, 0.66 to 0.97). CONCLUSION: This population-based cohort study showed that the use of DPP4i as add-on therapy to metformin did not increase the risk of DR progression compared to SU.
Cohort Studies ; Comorbidity ; Diabetes Mellitus, Type 2 ; Diabetic Retinopathy ; Dipeptidyl-Peptidase IV Inhibitors ; Glaucoma, Neovascular ; Humans ; Hypoglycemic Agents ; Intravitreal Injections ; Light Coagulation ; Metformin ; National Health Programs ; Retinal Detachment ; Vitrectomy ; Vitreous Hemorrhage

PURPOSE: To investigate the risk factors of diabetic nephropathy in patients with diabetic retinopathy requiring panretinal photocoagulation (PRP) and the visual prognosis. METHODS: A retrospective review of electronic medical records was conducted at Seoul St. Mary's Hospital, comprising 103 patients with type 2 diabetes mellitus and diabetic retinopathy who underwent PRP from 1996 to 2005. Patients with type 1 diabetes mellitus, non-diabetic renal disease, non-diabetic retinal disease, visually significant ocular disease, high-risk proliferative diabetic retinopathy, and advanced diabetic retinopathy were excluded. The patients were divided into three groups: no nephropathy (group 1, n = 45), microalbuminuria (group 2, n = 16), and advanced nephropathy (group 3, n = 42). Duration of diagnosis of retinopathy and nephropathy, glycosylated hemoglobin, visual acuity, complications, and treatment history were investigated. RESULTS: The mean glycosylated hemoglobin of group 3 (8.4 ± 1.2) was higher than that of group 1 (7.7 ± 1.0) or group 2 (7.7 ± 1.0) (p = 0.04). Mean interval from PRP to diagnosis of nephropathy was 8.8 ± 6.0 years in group 2 and 8.7 ± 4.9 years in group 3. The significant decrease in visual acuity in group 3 (28 eyes, 35.9%) was significantly higher than that in group 1 (15 eyes, 18.1%, p = 0.01) or group 2 (6 eyes, 20.7%, p = 0.03). Only vitreous hemorrhage showed a significantly higher incidence in groups 2 and 3 than in group 1 (p = 0.02). Multivariate regression analysis revealed that female sex and lower glycosylated hemoglobin were significantly associated with a protective effect on development of nephropathy. CONCLUSIONS: In the clinical setting, many patients with PRP-requiring diabetic retinopathy develop nephropathy an average of 8 to 9 years after PRP. Male sex and higher glycosylated hemoglobin could be risk factors of nephropathy.
Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Diabetic Nephropathies ; Diabetic Retinopathy ; Diagnosis ; Electronic Health Records ; Female ; Hemoglobin A, Glycosylated ; Humans ; Incidence ; Light Coagulation ; Male ; Prognosis ; Retinal Diseases ; Retrospective Studies ; Risk Factors ; Seoul ; Visual Acuity ; Vitreous Hemorrhage

Moyamoya disease (MMD) is a progressive cerebrovascular disease with unknown etiology, characterized by bilateral stenoocclusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network formation at the base of the brain. MMD has an intrinsic nature to convert the vascular supply for the brain from internal carotid (IC) system to the external carotid (EC) system, as indicated by Suzuki’s angiographic staging. Insufficiency of this ‘IC-EC conversion system’ could result not only in cerebral ischemia, but also in intracranial hemorrhage from inadequate collateral anastomosis, both of which represent the clinical manifestation of MMD. Surgical revascularization prevents cerebral ischemic attack by improving cerebral blood flow, and recent evidence further suggests that extracranial-intracranial bypass could powerfully reduce the risk of re-bleeding in MMD patients with posterior hemorrhage, who were known to have extremely high re-bleeding risk. Although the exact mechanism underlying the hemorrhagic presentation in MMD is undetermined, most recent angiographic analysis revealed the characteristic angio-architecture related to high re-bleeding risk, such as the extension and dilatation of choroidal collaterals and posterior cerebral artery involvement. We sought to update the current management strategy for hemorrhagic MMD, including the outcome of surgical revascularization for hemorrhagic MMD in our institute. Further investigations will clarify the optimal surgical strategy to prevent hemorrhagic manifestation in patients with MMD.
Angiography ; Brain ; Brain Ischemia ; Carotid Artery, Internal ; Cerebrovascular Circulation ; Cerebrovascular Disorders ; Choroid ; Dilatation ; Hemorrhage ; Humans ; Intracranial Hemorrhages ; Moyamoya Disease ; Posterior Cerebral Artery

PURPOSE: Antithrombotic therapy could be related with nuisance bleeding. This study investigated whether vitreous hemorrhage (VH) is associated with specific types of antithrombotic medication in patients with atrial fibrillation (AF). MATERIALS AND METHODS: In the Korean National Health Insurance Service National Sample Cohort, we identified 9352 antiplatelet/anticoagulant-treated AF patients. The occurrence of VH was compared between warfarin (n=1493) and a propensity score (PS)-matched antiplatelet group (n=1493) and between warfarin (n=1493) and a PS-matched warfarin+antiplatelet group (n=1493). RESULTS: The outcomes of VH were lower in the warfarin than in the matched antiplatelet (1.45 vs. 3.72 events/1000 patient-years) and matched warfarin+antiplatelet groups (1.45 vs. 6.87 events/1000 patient-years). Compared with warfarin, the risk of VH increased with antiplatelet [adjusted hazard ratio (aHR) 3.90; 95% confidence interval (CI) 1.22–12.4, p=0.022] and warfarin+antiplatelet agents (aHR 4.39, 95% CI 1.74–11.2, p=0.002). Compared with warfarin only, warfarin+antiplatelet agents increased the risk of VH in patients ≥65 years, regardless of gender and hypertension. The risk of VH was significantly higher with dual antiplatelet therapy (aHR: 5.02, 95% CI: 1.56–16.2, p=0.007) or in dual (aHR: 5.02, 95% CI: 1.74–14.5, p=0.003) or triple therapy using warfarin and antiplatelet agents than with warfarin monotherapy (aHR: 6.12, 95% CI: 1.76–21.3, p=0.004). CONCLUSION: Dual antiplatelet or triple therapy increased the risk of VH significantly, compared to warfarin monotherapy. Considering the low efficacy of preventing ischemic stroke and high risk of bleeding, dual or triple therapy using warfarin and antiplatelet agents should be avoided to prevent VH in AF patients.
Atrial Fibrillation* ; Cohort Studies* ; Hemorrhage ; Humans ; Hypertension ; National Health Programs* ; Platelet Aggregation Inhibitors ; Propensity Score ; Stroke ; Vitreous Hemorrhage* ; Warfarin

PURPOSE: A case of bilateral rhegmatogenous retinal detachment is reported after pazopanib treatment of a patient with breast angiosarcoma. CASE SUMMARY: A 53-year-old female presented with bleeding in a right breast mass prior to an emergency room visit. She was diagnosed with metastatic breast angiosarcoma after a breast mass biopsy. She was treated with paclitaxel and radiation therapy. Systemic pazopanib treatment was added to treat lung metastasis. After 3 weeks, she felt sudden floaters in her right eye. In her fundus examination, there was vitreous hemorrhage, but no retinal detachment was noted. Five weeks later, she visited the clinic for a bilateral temporal visual field defect. A fundus examination showed bilateral retinal detachments with superonasal retinal tears. Both the patient and her family did not want surgery for her systemic condition because of her terminal cancer. CONCLUSIONS: Retinal detachment has been reported as a rare complication after systemic pazopanib treatment, but there has been no previous report in the Republic of Korea, therefore this is the first case of bilateral retinal detachments after systemic pazopanib treatment.
Biopsy ; Breast ; Emergency Service, Hospital ; Female ; Hemangiosarcoma ; Hemorrhage ; Humans ; Lung ; Middle Aged ; Neoplasm Metastasis ; Paclitaxel ; Republic of Korea ; Retinal Detachment ; Retinal Perforations ; Retinaldehyde ; Visual Fields ; Vitreous Hemorrhage