Autosomal Dominant Vitreoretinochoroidopathy Latest Advances

Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 06, 2026

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Journal: Acta ophthalmologica

Published: March 04, 2025

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Journal: Ophthalmic genetics

Published: July 03, 2024

Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations.

Journal: Cureus

Published: December 26, 2022

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.

Journal: BMJ open ophthalmology

Published: May 30, 2021

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Journal: International journal of molecular sciences

Published: December 30, 2019

The Best Retinitis Pigmentosa Masquerade.

Journal: Ophthalmology

Published: June 27, 2019

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Journal: Human mutation

Published: January 27, 2019

Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.

Journal: Ophthalmic genetics

Published: January 12, 2019

Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype".

Journal: Ophthalmic genetics

Published: January 12, 2019

Revolution in evolution.

Journal: Indian journal of ophthalmology

Published: November 20, 2018

Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Journal: Clinical genetics

Published: November 19, 2018

Autosomal Dominant Vitreoretinochoroidopathy Latest Advances

Find the Latest Research About Autosomal Dominant Vitreoretinochoroidopathy

Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene

Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations.

Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations.

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

The Best Retinitis Pigmentosa Masquerade.

The Best Retinitis Pigmentosa Masquerade.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.

Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.

Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype".

Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype".

Revolution in evolution.

Revolution in evolution.

Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.