Cargando…

Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up

Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period. Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included fundus photography, optical coherence tomogr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Lei, Wang, Hai-Yan, Jia, Wei, Wang, Ru, Wang, Yu-Sheng, Cui, Yang-Yang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9706088/ https://www.ncbi.nlm.nih.gov/pubmed/36457741 http://dx.doi.org/10.3389/fgene.2022.1045145

Ejemplares similares

Autosomal recessive bestrophinopathy with macular hole
por: Hirawat, Raj Shri, et al.
Publicado: (2020)

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
por: Pfister, Tyler A., et al.
Publicado: (2021)

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
por: Crowley, C., et al.
Publicado: (2014)

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)
por: Habibi, Imen, et al.
Publicado: (2019)

Angle-closure glaucoma associated with autosomal recessive bestrophinopathy
por: Raja, Vidya, et al.
Publicado: (2022)

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
por: Kim, Hae Rang, et al.
Publicado: (2022)

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy
por: Shi, Jie, et al.
Publicado: (2023)

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population
por: Gao, Tingting, et al.
Publicado: (2018)

Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
por: Yamada, Rika, et al.
Publicado: (2021)

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases
por: Khojasteh, Hassan, et al.
Publicado: (2021)

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient
por: Zhao, Bo, et al.
Publicado: (2023)

Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy
por: Lee, Ji Hwan, et al.
Publicado: (2020)

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
por: Hufendiek, Karsten, et al.
Publicado: (2020)

Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report
por: Shi, Yan, et al.
Publicado: (2020)

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation
por: Kubota, Daiki, et al.
Publicado: (2016)

Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy
por: Witsberger, Emily, et al.
Publicado: (2019)

Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy
por: Moreira Jr., Carlos A., et al.
Publicado: (2017)

Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy
por: Marmorstein, Alan D., et al.
Publicado: (2018)

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials
por: Casalino, Giuseppe, et al.
Publicado: (2021)

Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy
por: Tsunoda, Kazushige, et al.
Publicado: (2022)

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
por: Davidson, Alice E., et al.
Publicado: (2010)

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
por: Ye, Panpan, et al.
Publicado: (2020)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
por: Haque, Obaid Imtiyazul, et al.
Publicado: (2022)

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
por: Li, Shan, et al.
Publicado: (2020)

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes
por: Milenkovic, Andrea, et al.
Publicado: (2018)

Correction: Habibi I. et al. “Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)” Genes, 2019, 10, 953
por: Habibi, Imen, et al.
Publicado: (2020)

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
por: Qian, Nannan, et al.
Publicado: (2022)

First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
por: Bittmann, Stefan, et al.
Publicado: (2022)

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
por: Tang, Yen-An, et al.
Publicado: (2020)

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening
por: Chen, Jianjun, et al.
Publicado: (2017)

Case Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family
por: Xiang, Qinqin, et al.
Publicado: (2023)

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
por: Habib, Faiza, et al.
Publicado: (2023)

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
por: Collison, Frederick T., et al.
Publicado: (2019)

Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
por: Lin, Shin-Yu, et al.
Publicado: (2021)

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
por: Alyafee, Yusra, et al.
Publicado: (2022)

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
por: Miao, Mingzhu, et al.
Publicado: (2023)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Habibzadeh, Parham, et al.
Publicado: (2020)

Correlation between Macular Neovascularization (MNV) Type and Druse Type in Neovascular Age-Related Macular Degeneration (AMD) Based on the CONAN Classification
por: Muth, Daniel Rudolf, et al.
Publicado: (2022)

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
por: Su, Ying, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qkvai3cvpok762h803kuvi3o65