Francis L. Munier
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View article: Assessment of leachables in hospital pharmacy compounded topotecan conditioned in common off-label syringes for intravitreal use
Assessment of leachables in hospital pharmacy compounded topotecan conditioned in common off-label syringes for intravitreal use Open
Compounding drug products is a vital hospital pharmacy feature that requires safe and compatible primary packaging, particularly for prefilled syringes (PFSs). The off-label use of plastic syringes in batch compounding for intravitreal adm…
View article: Spatial transcriptomics of retinoblastoma: a visual window on intra-patient heterogeneity
Spatial transcriptomics of retinoblastoma: a visual window on intra-patient heterogeneity Open
Background Retinoblastoma is the most common intraocular malignant tumor in childhood. Although current treatments offer a high survival rate, treatment toxicity, tumor relapse, and treatment resistance require a deeper understanding of th…
View article: Extra‐Ocular Vascular and Cardiorespiratory Events During Intra‐Arterial Chemotherapy in Children With Retinoblastoma: Incidence, Predictive Risk Factors, Management, and Impact on Further Treatment
Extra‐Ocular Vascular and Cardiorespiratory Events During Intra‐Arterial Chemotherapy in Children With Retinoblastoma: Incidence, Predictive Risk Factors, Management, and Impact on Further Treatment Open
Background The purpose of this study was to report on the incidence of extra‐ocular vascular and cardiorespiratory adverse events in patients treated with intra‐arterial chemotherapy (IAC) for retinoblastoma and identify risk factors for t…
View article: Stability study of topotecan in ophthalmic prefilled syringes for intravitreal delivery
Stability study of topotecan in ophthalmic prefilled syringes for intravitreal delivery Open
This study demonstrated that TPT solutions at 20 µg/mL and 200 µg/mL conditioned in BBraun Omnifix syringes could be stored at 5±3°C for 12 months for safe and secure administration to patients.
View article: Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 Open
View article: MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma
MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma Open
This retrospective multicenter study examines therapy-induced orbital and ocular MRI findings in retinoblastoma patients following selective intra-arterial chemotherapy (SIAC) and quantifies the impact of SIAC on ocular and optic nerve gro…
View article: IC3D Classification of Corneal Dystrophies—Edition 3
IC3D Classification of Corneal Dystrophies—Edition 3 Open
Purpose: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This u…
View article: When the second comes first– rhabdomyosarcoma preceding heritable retinoblastoma– a case report
When the second comes first– rhabdomyosarcoma preceding heritable retinoblastoma– a case report Open
Background Retinoblastoma (rb) is the most frequent intraocular tumor, accounting for 3% of all childhood cancers. Heritable rb survivors are germline carriers for an RB1 mutation and have a lifelong risk to develop non-ocular second prima…
View article: New melphalan derivatives for the treatment of retinoblastoma in combination with thermotherapy
New melphalan derivatives for the treatment of retinoblastoma in combination with thermotherapy Open
Melphalan, a drug in retinoblastoma treatment, was not designed for combination with focal therapy, but is more active when combined with heat. Incorporating perfluorous chains to the drug rsulted in thermoresponsive and increased cytotoxi…
View article: Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females Open
We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes. Clinical examination in…
View article: Genetics of retinitis pigmentosa and other hereditary retinal disorders in Western Switzerland
Genetics of retinitis pigmentosa and other hereditary retinal disorders in Western Switzerland Open
Introduction: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim is to report and analyze the proportions of mutations in inherited retinal disease (IRD) causing genes from a single cente…
View article: Part-time Parental Leave and Life Satisfaction: Evidence from the Netherlands
Part-time Parental Leave and Life Satisfaction: Evidence from the Netherlands Open
There is extensive literature on the relationship between having children and life satisfaction. Although parenthood can provide meaningfulness in life, parenting may increase obligations and decrease leisure time, reducing life satisfacti…
View article: P111/88 Absorbable gelatin compressed sponge (Gelfoam) embolization of distal external carotid artery branches in intra-arterial chemotherapy for retinoblastoma
P111/88 Absorbable gelatin compressed sponge (Gelfoam) embolization of distal external carotid artery branches in intra-arterial chemotherapy for retinoblastoma Open
Introduction In intra-arterial chemotherapy for retinoblastoma, a backflow from unreachable external carotid artery branches in the ophthalmic artery can be challenging. Aim of Study We describe a novel endovascular technique using Gelfoam…
View article: Retinocytoma Undergoing Retinoblastoma Transformation in an Adult Patient
Retinocytoma Undergoing Retinoblastoma Transformation in an Adult Patient Open
We report a 46-year-old male patient with retinocytoma who presented at the age of 31 asymptomatically. An intraocular retinal mass was incidentally found in his right eye, when he underwent ophthalmological assessment for refractive surge…
View article: Translational screening platform to evaluate chemotherapy in combination with focal therapy for retinoblastoma
Translational screening platform to evaluate chemotherapy in combination with focal therapy for retinoblastoma Open
Retinoblastoma is the most common pediatric eye cancer. It is currently treated with a limited number of drugs, adapted from other pediatric cancer treatments. Drug toxicity and relapse of the disease warrant new therapeutic strategies for…
View article: Special Issue of Cancers: “Retinoblastoma: Current Challenges and Promising New Approaches”
Special Issue of Cancers: “Retinoblastoma: Current Challenges and Promising New Approaches” Open
Despite being a rare pediatric cancer arising in the developing retina from red/green cone precursors, retinoblastoma is the most common eye cancer worldwide and occupies an emblematic position in oncology and human genetics for the follow…
View article: The predictive capacity of in vitro preclinical models to evaluate drugs for the treatment of retinoblastoma
The predictive capacity of in vitro preclinical models to evaluate drugs for the treatment of retinoblastoma Open
View article: Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of<i>CYP2U1</i>
Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of<i>CYP2U1</i> Open
Purpose To report the retinal phenotype in two patients simulating type 2 macular telangiectasis with new variants in CYP2U1 implicated in Hereditary Spastic Paraplegia type 56 (HSP 56). Methods Five members of a non-consanguineous family …
View article: Ten-year experience with intracameral chemotherapy for aqueous seeding in retinoblastoma: long-term efficacy, safety and toxicity
Ten-year experience with intracameral chemotherapy for aqueous seeding in retinoblastoma: long-term efficacy, safety and toxicity Open
Aims To report long-term results of intracameral chemotherapy (ICC) for aqueous seeding (AS) in retinoblastoma. Methods Retrospective study including 20 patients with primary (n=4) or secondary non-iatrogenic (n=16) AS treated with ICC acc…
View article: Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma
Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma Open
Aqueous humor (AH) can be easily and safely used to evaluate disease-specific biomarkers in ocular disease. The aim of this study was to identify specific proteins biomarkers in the AH of retinoblastoma (RB) patients at various stages of t…
View article: Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography Open
Epiretinal/epipapillary vitreous seeding can be the source of a secondary intraretinal/optic nerve head relapse. SD-OCT is instrumental to follow such cases. Enucleation remains the safest option if secondary optic nerve invasion is suspec…
View article: New<i>COL6A6</i>Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
New<i>COL6A6</i>Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family Open
COL6A6 is widely expressed in human tissues and evolutionary conserved. It is thought to interact with a range of extracellular matrix components. Our findings suggest that this form of RP has long-term useful central visual acuity and a m…
View article: Phenotype of Coats disease in females
Phenotype of Coats disease in females Open
Objective To determine whether the clinical presentation of Coats disease differs between males and females. Methods and analysis Records of patients diagnosed with Coats disease at a single institution were retrospectively reviewed. Demog…
View article: Comparative Natural History of Visual Function From Patients With Biallelic Variants in<i>BBS1</i>and<i>BBS10</i>
Comparative Natural History of Visual Function From Patients With Biallelic Variants in<i>BBS1</i>and<i>BBS10</i> Open
Retinal degeneration appears earlier and is more severe in BBS10 cases as compared to those with BBS1 variants. The course of change of visual function appears to relate to genetic subtypes of BBS.
View article: Defining High-risk Retinoblastoma
Defining High-risk Retinoblastoma Open
Responses to this nonvalidated survey conducted in 2020-2021 showed little uniformity in the definition of high-risk retinoblastoma. Postlaminar optic nerve infiltration, involvement of optic nerve transection, and extrascleral tumor exten…
View article: Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy Open
Inherited retinal dystrophies (IRD) are due to various gene mutations. Each mutated gene instigates a specific cell homeostasis disruption, leading to a modification in gene expression and retinal degeneration. We previously demonstrated t…
View article: Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries
Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries Open
View article: Current Indications of Secondary Enucleation in Retinoblastoma Management: A Position Paper on Behalf of the European Retinoblastoma Group (EURbG)
Current Indications of Secondary Enucleation in Retinoblastoma Management: A Position Paper on Behalf of the European Retinoblastoma Group (EURbG) Open
Secondary enucleation (SE) puts an irreversible end to eye-preserving therapies, whenever their prolongation is expected to violate the presumed state of metastatic grace. At present, it must be acknowledged that clear criteria for SE are …
View article: Natural history study of visual function in patients with BBS1- and BBS10-related retinal degeneration.
Natural history study of visual function in patients with BBS1- and BBS10-related retinal degeneration. Open
View article: OCT Imaging of Schlemm’s Canal Invasion in a Retinoblastoma Patient
OCT Imaging of Schlemm’s Canal Invasion in a Retinoblastoma Patient Open