Carlo Rivolta
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View article: Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease Open
Background: Stargardt disease (STGD1) due to bi-allelic mutations in the ABCA4 gene is the most frequent single-gene retinal disease with a genetic prevalence of about 1 in 7,000. Pathology in STGD1 is due to dysfunction of a retina-specif…
View article: Steroidome Dysregulation and Complement C4 Copy Number Variation in Men with Central Serous Chorioretinopathy
Steroidome Dysregulation and Complement C4 Copy Number Variation in Men with Central Serous Chorioretinopathy Open
Background Central serous chorioretinopathy (CSCR) predominantly affects middle-aged men, in which systemic glucocorticoid exposure is a well-established risk factor. Genetic studies have implicated copy number variation (CNV) in complemen…
View article: RetiGene, a comprehensive gene atlas for inherited retinal diseases
RetiGene, a comprehensive gene atlas for inherited retinal diseases Open
Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest amo…
View article: Early-onset macular drusen, a monogenic form of age-related macular degeneration
Early-onset macular drusen, a monogenic form of age-related macular degeneration Open
View article: RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs) Open
Summary Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the hig…
View article: Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB Open
View article: A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort Open
Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with I…
View article: Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.
Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype. Open
Introduction: To report the phenotype and progression pattern of RP1 retinitis pigmentosa carrying the variant c.2613dupA (p.Arg872Thrfs*2). Methods: Retrospective chart review and prospective cohort study from 13 families with confirmed R…
View article: Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy Open
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majorit…
View article: A novel recurrent <i>ARL3</i> variant c.209G &gt; A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
A novel recurrent <i>ARL3</i> variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Open
Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the identification of genes associated with IRDs, many individuals and families still have not receive…
View article: Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies
Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies Open
CRB1-IRDs are characterized by changes in plasma levels of complement factors and proteins of the innate immune system, and linkage between CRB1 and CFH genes implicates functional variants of the CFH-CFHR locus with specific pathogenic va…
View article: Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors
Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors Open
Three-dimensional retinal culture systems help to understand eye development and the pathology of disorders. There is a need for reporter stem cell lines to allow in vitro studies on retinal progenitors and photoreceptors and their develop…
View article: Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1 Open
Patients with PXE exhibit significant slowing of both cone- and rod-mediated dark adaptation, particularly in regions prone to BrM calcification. These findings suggest that dark adaptometry and assessment of BrM calcification can serve as…
View article: Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors
Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors Open
The most common genetic cause of the childhood blinding disease Leber Congenital Amaurosis is mutation of the ciliopathy gene CEP290 . Though studied extensively, the photoreceptor-specific roles of CEP290 remain unclear. Using advanced mi…
View article: Insights into eye genetics and recent advances in ocular gene therapy
Insights into eye genetics and recent advances in ocular gene therapy Open
The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic…
View article: High-efficiency base editing in the retina in primates and human tissues
High-efficiency base editing in the retina in primates and human tissues Open
View article: Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants
Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants Open
THRBencodes thyroid hormone receptor β which produces two human isoforms (TRβ1 and TRβ2) by alternative splicing. The first THRB variant associated with autosomal dominant macular dystrophy (ADMD), NM_001354712.2:c.283+1G>A, was recently d…
View article: Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss Open
View article: De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder Open
View article: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment Open
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To…
View article: Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa Open
View article: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa Open
View article: Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression Open
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopa…
View article: An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants Open
Diamond-Blackfan anemia syndrome (DBA) is a ribosomopathy associated with loss-of-function variants in more than 20 ribosomal protein (RP) genes. Here, we report the genetic, functional, and biochemical dissection of 2 multigenerational pe…
View article: Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute Open
Introduction: The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European…
View article: A tool for estimating ground-based InSAR acquisition characteristics prior to monitoring installation and survey and its differences from satellite InSAR
A tool for estimating ground-based InSAR acquisition characteristics prior to monitoring installation and survey and its differences from satellite InSAR Open
Synthetic Aperture Radar (SAR) acquisition can be performed from satellites or from the ground by means of a so-called GB-InSAR (Ground-Based Interferometry SAR), but the signal emission and the output image geometry slightly differ betwee…
View article: Prácticas mortuorias y parentesco genético: STRs en muestras de individuos prehispánicos de la Quebrada de Humahuaca
Prácticas mortuorias y parentesco genético: STRs en muestras de individuos prehispánicos de la Quebrada de Humahuaca Open
El estudio de las prácticas mortuorias prehispánicas es factible de abordar desde los estudios genéticos, debido a que el ADN antiguo permite analizar relaciones de parentesco biológico. A partir de marcadores microsatélites de ocho indivi…
View article: Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase Open
View article: Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads Open
View article: Fine-tuning FAM161A gene augmentation therapy to restore retinal function
Fine-tuning FAM161A gene augmentation therapy to restore retinal function Open