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Longitudinal Clinical Follow-up and Genetic Spectrum of Patients with Rod-Cone Dystrophy associated
Compares genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B
Apr 17, 2018
First Gene Therapy FDA-Approved for an Inherited Retinal Disease
In 1972, Friedman and Roblin proposed that it was theoretically possible to introduce “good” DNA to replace defective DNA.
Mar 31, 2018
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...
Mar 18, 2018
Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene
Peng Yong Sim, V Swetha E Jeganathan, Alan F. Wright, Peter Cackett | 2018 Summary This case report depicts the clinical course of a...
Mar 14, 2018
A clinical and molecular characterisation of CRB1-associated maculopathy
These findings show that the rare CRB1 variant, c.498_506del, is strongly associated with localised retinal dysfunction.
Feb 1, 2018
FDA Approves Gene Therapy for Inherited Blindness Developed by the UPenn and CHOP
In 2017, the FDA approved a gene therapy for RP caused by RPE65. The decision marked the first approved treatment for any form RP.
Dec 19, 2017
Compound heterozygous variants in IFT140 as a cause of non-syndromic Retinitis Pigmentosa
Retinitis pigmentosa sine pigmento, a variant of RP with an absence of characteristic peripheral bone-spicule like pigmentary changes.
Nov 7, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
May 15, 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon
and underlies severe Usher syndrome on the Arabian Peninsula Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine...
May 2, 2017
A mutation in CLRN1 underlies severe Usher Syndrome on Arabian Peninsula
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula...
May 2, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States
This is the first dominant-acting mutation identified in SAG, a founder mutation possibly originating in Mexico several centuries ago.
Apr 30, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Study shows a retinal dystrophy-related phenotype spectrum and its genetic etiology; highlights the complexity of spliceosomal gene network.
Apr 5, 2017
Retinitis pigmentosa
"Retinitis pigmentosa (RP) is the name given to a group of inherited eye conditions called retinal dystrophies."
Mar 14, 2017
The Joubert Syndrome Protein INPP5E Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane
Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic
Jan 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum
Jan 26, 2017
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing
ABGL5 is one of the genes reported as a candidate for recessive retinal degeneration. Potentially deleterious variants in AGBL5 have . . .
Dec 13, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa
This study performed next-generation sequencing to reveal additional RP cases with AGBL5 variants, including protein-truncating variants.
Nov 30, 2016
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...
Nov 25, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B,
Regulates ciliary localization of Joubert syndrome-associated protein INPP5E Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, and...
Oct 14, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
RPGR as a critical to cilia and suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6B.
Oct 14, 2016
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