BEST1 mutations play a role in some cases of RP. However, it's difficult to understand why some mutations associate with peripheral retinal

Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.

Presents a patient with a clinical phenotype consistent with classic features of RP.

Series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.

Stem cell-derived cell transplantation in the eye is one therapy being explored for inherited retinal degenerations such as RP.

The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .

Explore a variety of therapeutic compounds/reagents to design either combined cell and gene- based therapies or independent approaches.

In this study, we totally investigated seven unrelated non-syndromic RD patients, including five RP and two LCA cases.

This represents second report of a TTC8 mutation in nonsyndromic RP, thus confirming the identity of TTC8 as causative gene for RP51.

Findings suggest that a small portion of RP may be caused by mutations in genes responsible for other forms of retinal dystrophy.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.

This review provides an overview of stem cell-based treatment of RP and its main problems, providing evidence for the safety and . . .

DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive RP in a family of Ashkenazi Jewish origin.

The third-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiesterase-6 (PDE6).

Medical Hypothesis, Discovery Innovation Ophthalmology Journal | Harvey Siy Uy, MD, Pik Sha Chan, MD, and Franz Marie Cruz, MD | 2013...

This review summarizes the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems.

Data show that CRB1 mutations are a relatively frequent cause of early-onset retinal degeneration in the Israeli and Palestinian population.

In this study, we sought to determine the functional network of INPP5E and the mechanisms by which INPP5E is targeted to primary cilia.

Phenotypic similarities to the retinal dysfunction assoc. with RPE65 mutations, suggest that LRAT deficiency may respond to novel therapies.

22 subjects from a four generation Chinese family with RP, thin cornea, congenital cataract and high myopia is reported in this study