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 changes of visual acuity and central macular thickness (CMT) in patients with diabetic retinopathy (DR) receiving long-term hemodialysis (HD). METHODS: From January 1, 2008, to December 31, 2018, the medical records of patients who were diagnosed with DR receiving HD three times a week for ≥18 months due to chronic kidney disease (CKD) were analyzed. Among them, patients diagnosed with DR 6 months before the start of HD were included. Patients with vitreous hemorrhage (VH) affecting visual acuity (VA), other retinal diseases, and cataract surgery after HD were excluded. The VA and CMT before HD and at 1, 3, 6, 12, and 18 months after HD were analyzed. RESULTS: Of the 222 eyes of 111 patients who were diagnosed with DR and received HD for CKD due to diabetes, 174 eyes with DR diagnosed after starting HD were excluded. Ten eyes with VH before starting HD, two eyes with epiretinal membrane, and four eyes with cataract surgery after starting HD were also excluded. Thirty-two eyes of 18 patients were included. The mean age of the patients was 53.71 ± 9.25 years. Twenty-four males and eight female patients were included in the study. The mean logMAR VA improved significantly from 0.36 ± 0.28 before starting HD to 0.26 ± 0.27 at 18 months after starting HD (p = 0.002). The mean CMT was significantly decreased from 307.12 ± 89.52 µm before starting HD to 279.71 ± 61.75 µm at 12 months after starting HD (p = 0.02). CONCLUSIONS: In patients with DR who underwent long-term HD, CMT decreased and VA improved, when compared with these parameters before HD.
Cataract ; Diabetic Retinopathy ; Epiretinal Membrane ; Female ; Humans ; Macular Edema ; Male ; Medical Records ; Renal Dialysis ; Renal Insufficiency, Chronic ; Retinal Diseases ; Visual Acuity ; Vitreous Hemorrhage

PURPOSE: To report a case of choroidal neovascularization in a Best disease patient treated with intravitreal bevacizumab injection and followed up with optical coherence tomography angiography (OCTA). CASE SUMMARY: A 20-year-old female visited our clinic with decreased visual acuity of the left eye for 6 months. On optical coherence tomography (OCT), subretinal fluid and hyperreflective subretinal clumps were observed in the macula of the right eye. Subretinal hemorrhage and subretinal fluid were observed in the left eye. Choroidal neovascularization in the left eye was observed using OCTA, fluorescein angiography, and indocyanine green angiography. A full-field electroretinogram was normal in both eyes, but an electrooculogram revealed that the Arden ratio was 1.564 in the right eye and 1.081 in the left eye. Intravitreal bevacizumab injection was performed in the left eye. At 6 months after the intravitreal injection, the best-corrected visual acuity of the left eye had recovered to 20/20. OCT revealed that subretinal fluid reduced and choroidal neovascularization was stable. After 12 months, visual acuity of the left eye was maintained at 20/20, but OCTA revealed that choroidal neovascularization had increased. CONCLUSIONS: Choroidal neovascularization associated with Best disease can improve by intravitreal bevacizumab injection, and the changes in choroidal neovascularization can be followed using OCTA.
Angiography ; Bevacizumab ; Choroid ; Choroidal Neovascularization ; Electrooculography ; Female ; Fluorescein Angiography ; Hemorrhage ; Humans ; Indocyanine Green ; Intravitreal Injections ; Subretinal Fluid ; Tomography, Optical Coherence ; Visual Acuity ; Vitelliform Macular Dystrophy ; Young Adult

PURPOSE: Although there are significant risks, retrobulbar anesthesia is commonly used for eye surgery. We report two cases of Purtscher-like retinopathy, a rare complication. CASE SUMMARY: (Case 1) A 76-year-old female visited our hospital because of decreased vision. She underwent right cataract surgery with retrobulbar anesthesia. After 7 days, she had decreased visual acuity (VA) and a constricted visual field. Multiple white spots and cotton wool spots around the optic nerve and post pole, macular edema (ME), and subretinal fluid (SRF) were found using a fundus examination. A non-perfusion area and staining of the vascular wall were seen using fluorescence angiography. Although carotid arterial angiography, thrombolysis, and intravenous injection of high-dose steroids were performed, the ME and SRF persisted. After intravitreal aflibercept was injected twice (2-month interval), the ME and SRF decreased and remained stable. (Case 2) A 61-year-old male underwent left cataract surgery with retrobulbar anesthesia. After anesthesia, the VA of the left eye was 10 cm finger count. The fundus examination showed multiple hemorrhage blots and retinal hemorrhages, and hyperfluorescence around the optic nerve and post pole; vascular wall staining revealed a Purtscher-like retinopathy. Left carotid arterial angiography, thrombolysis, and intravenous injection of high-dose steroids were then performed. After treatment, the VA of the left eye, ME, and SRF were improved at the 4-month follow-up. CONCLUSIONS: We report rare complications of retrobulbar anesthesia, with active and timely treatment having a positive impact on the visual prognosis.
Aged ; Anesthesia ; Angiography ; Cataract ; Dental Caries ; Female ; Fingers ; Fluorescein Angiography ; Follow-Up Studies ; Hemorrhage ; Humans ; Injections, Intravenous ; Macular Edema ; Male ; Middle Aged ; Optic Nerve ; Prognosis ; Retinal Hemorrhage ; Steroids ; Subretinal Fluid ; Visual Acuity ; Visual Fields ; Wool

PURPOSE: To report a case of extensive choroidal effusion following the Valsalva maneuver under consecutive general anesthesia. CASE SUMMARY: A 41-year-old man who underwent panretinal photocoagulation with proliferative diabetic retinopathy had pars plana vitrectomy and endolaser photocoagulation under general anesthesia due to vitreous hemorrhage. Urology cooperated as the patient had hematuria; the day after the operation, he was transferred to the urology department. Two days after vitrectomy, the patient had an urgent transurethral bladder tumor resection under general anesthesia with suspicion of bladder tumor. At 6 days postoperatively, extensive choroidal effusion was observed from 8 to 10 o'clock on fundus examination and ultrasonography. On day 23 after urological surgery, the choroidal effusion had disappeared without treatment. CONCLUSIONS: Consecutive general anesthesia requires caution, as it is not only burdensome to the body as a whole but may also cause choroidal effusion in the eye.
Adult ; Anesthesia, General ; Choroid ; Diabetic Retinopathy ; Hematuria ; Humans ; Light Coagulation ; Ultrasonography ; Urinary Bladder Neoplasms ; Urology ; Valsalva Maneuver ; Vitrectomy ; Vitreous Hemorrhage