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Jul 23, 2022
Potential of endogenous regenerative technology for in situ regenerative medicine
Endogenous regenerative technology involves the use of a patient's biologically active proteins, growth factors and biomaterial scaffolds.

Jul 3, 2022
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
Report on ten patients with ARB due to mutations in BEST1 characterizing their clinical features and genetic mutations.


Jun 30, 2022
CLINICAL TRIAL | Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
Natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy.

Jun 16, 2022
A new hope for a therapy against retinitis pigmentosa
June 17, 2022 | Université de Genève Journal Reference Olivier Mercey, Corinne Kostic, Eloïse Bertiaux, Alexia Giroud, Yashar Sadian,...

May 31, 2022
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Putative severe branchpoint variant in BBS1, together with a mild missense variant, underlies non-syndromic RP in four unrelated individuals

Apr 29, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD).

Mar 20, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago
These results provide insight into the origin of the CLCC1 mutation in the Pakistan population, estimated to have occurred 2000-5000 yrs ago


Mar 17, 2022
Antabuse may help revive vision in people with progressive blinding disorders
UC Berkeley researchers have found that a drug once widely used to wean alcoholics off drinking may help improve sight in mice with RD.

Mar 13, 2022
Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa
Aim of present study: screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic arRP.

Mar 3, 2022
More than Meets the Eye: The Aryl Hydrocarbon Receptor is an Environmental Sensor, Physiological Regulator and a Therapeutic Target in Ocular Disease
Highlights the role of AhR in the ocular system, as an environmental sensor, normal physiological regulator and potential therapeutic target


Feb 18, 2022
Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families
To describe the clinical heterogeneity of patients with novel mutations in BEST1.

Jan 31, 2022
MalaCards: The human disease database
MalaCards is an integrated database of human maladies and annotations, modeled on the architecture and richness of the popular GeneCards.

Jan 31, 2022
ProQR seeking Clinical Trial Participants
Usher Syndrome Coalition announces partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A.

Jan 26, 2022
UCI researchers discover cause, develop pharmacological treatment for reducing retinitis pigmentosa vision loss
Although AdipoR1 is found in multiple organs, highest levels are found in eye and brain, suggesting its critical importance to the retina.

Jan 24, 2022
RPGR and X-linked Retinitis Pigmentosa
Among the most common genetic causes of IRDs are mutations in the RPGR gene located on the X-chromosome.

Jan 19, 2022
Eluminex Biosciences Acquires Zuretinol Acetate from Retinagenix Holdings
Eluminex announced today it acquired rights for a novel oral therapy to treat LCA or RP caused mutations of the RPE65 or LRAT gene.

Jan 15, 2022
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families
Purpose: identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with RP in Chinese families.

Jan 1, 2022
Retinitis Pigmentosa Pathway
Many genes have been identified for the inherited and highly heterogeneous disorders - some are arRP, adRP and X-linked.

Dec 31, 2021
A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
Our results . . . augment the evidence that the ARL3 gene is another cause of non-syndromic retinal degeneration.

Dec 21, 2021
First patients dosed in phase 2/3 gene therapy trial for retinitis pigmentosa
The first patients have been dosed in the phase 2/3 Sirius and Celeste clinical trials investigating QR-421a in patients with USH2A.
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