Cargando…

Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature

BACKGROUND: Leber’s congenital amaurosis (LCA) is a known inherited retinal disease (IRD) associated with severe visual loss, nystagmus, amaurotic pupils, oculo-digital sign and markedly reduced or absent electroretinograms (ERG). Retinal astrocytic hamartomas (RAH) is a benign vascularized glial tu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paul, Lagan, Kumar, Sumit, Singh, Shalini, Jain, Tanya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510068/ https://www.ncbi.nlm.nih.gov/pubmed/32967644 http://dx.doi.org/10.1186/s12886-020-01646-z

Ejemplares similares

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
por: Khan, Shaheryar Ahmed, et al.
Publicado: (2019)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Molecular characterization of Leber congenital amaurosis in Koreans
por: Seong, Moon-Woo, et al.
Publicado: (2008)

NMNAT1 mutations cause Leber congenital amaurosis
por: Falk, Marni J, et al.
Publicado: (2012)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
por: Han, Jinu, et al.
Publicado: (2017)

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations
por: Huang, Chu-Hsuan, et al.
Publicado: (2021)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
por: Srilekha, Sundaramurthy, et al.
Publicado: (2015)

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials
por: Chiu, Wei, et al.
Publicado: (2021)

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials
por: Daich Varela, Malena, et al.
Publicado: (2022)

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
por: Melillo, Paolo, et al.
Publicado: (2012)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
por: Weisschuh, Nicole, et al.
Publicado: (2018)

Novel mutation identified in Leber congenital amaurosis - a case report
por: Sato, Shigeru, et al.
Publicado: (2020)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2020)

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
por: Berger, Silke, et al.
Publicado: (2023)

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
por: Jacobson, Samuel G., et al.
Publicado: (2009)

Targeted Ablation of Crb1 and Crb2 in Retinal Progenitor Cells Mimics Leber Congenital Amaurosis
por: Pellissier, Lucie P., et al.
Publicado: (2013)

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis
por: Kumaran, Neruban, et al.
Publicado: (2018)

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature
por: Petraglia, Anthony L., et al.
Publicado: (2012)

Gene Therapy for Inherited Retinal Disorders Short Term Results of the First Human Trials in Leber’s Congenital Amaurosis
por: Ghasemi Falavarjani, Khalil
Publicado: (2009)

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy
por: Porto, Fernanda B. O., et al.
Publicado: (2017)

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
por: Kumaran, Neruban, et al.
Publicado: (2017)

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
por: Motta, Fabiana L., et al.
Publicado: (2019)

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function
por: Jacobson, Samuel G., et al.
Publicado: (2021)

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids
por: Kruczek, Kamil, et al.
Publicado: (2021)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
por: Panneman, Daan M., et al.
Publicado: (2023)

Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis
por: Fischer, M. Dominik, et al.
Publicado: (2023)

Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
por: Midena, Giulia, et al.
Publicado: (2022)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis
por: Ashtari, Manzar, et al.
Publicado: (2014)

Ultra wide field imaging of coats like response in Leber’s congenital amaurosis
por: Kumar, Vinod, et al.
Publicado: (2017)

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
por: Surl, Dongheon, et al.
Publicado: (2020)

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
por: Padhy, Srikanta Kumar, et al.
Publicado: (2020)

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
por: O'Connor, Keli, et al.
Publicado: (2022)

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
por: Wang, Xia, et al.
Publicado: (2020)

Correction: Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_pmnn6a78np33411o9s02mqq17n