We report three missense variants in MERTK and present the associated phenotypic data, which are supportive of non-syndromic RP.

Endogenous regenerative technology involves the use of a patient's biologically active proteins, growth factors and biomaterial scaffolds.

Report on ten patients with ARB due to mutations in BEST1 characterizing their clinical features and genetic mutations.

Natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy.

June 17, 2022 | Université de Genève Journal Reference Olivier Mercey, Corinne Kostic, Eloïse Bertiaux, Alexia Giroud, Yashar Sadian,...

Putative severe branchpoint variant in BBS1, together with a mild missense variant, underlies non-syndromic RP in four unrelated individuals

Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD).

These results provide insight into the origin of the CLCC1 mutation in the Pakistan population, estimated to have occurred 2000-5000 yrs ago

UC Berkeley researchers have found that a drug once widely used to wean alcoholics off drinking may help improve sight in mice with RD.

Aim of present study: screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic arRP.

Highlights the role of AhR in the ocular system, as an environmental sensor, normal physiological regulator and potential therapeutic target

To describe the clinical heterogeneity of patients with novel mutations in BEST1.

MalaCards is an integrated database of human maladies and annotations, modeled on the architecture and richness of the popular GeneCards.

Usher Syndrome Coalition announces partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A.

Although AdipoR1 is found in multiple organs, highest levels are found in eye and brain, suggesting its critical importance to the retina.

Among the most common genetic causes of IRDs are mutations in the RPGR gene located on the X-chromosome.

Eluminex announced today it acquired rights for a novel oral therapy to treat LCA or RP caused mutations of the RPE65 or LRAT gene.

Purpose: identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with RP in Chinese families.

Many genes have been identified for the inherited and highly heterogeneous disorders - some are arRP, adRP and X-linked.

Our results . . . augment the evidence that the ARL3 gene is another cause of non-syndromic retinal degeneration.