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Dr. Shiming Chen (Opthalmology & Visual Sciences  – Washington University) has an exciting new study  and  is recruiting CRX families.

To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1.

Hormones significantly influence protein development particularly during menstruation and menopause, where fluctuations in hormone levels

Retinal findings raised suspicion for this inherited retinal disease, confirmed with genetic testing.

 New research . . . suggests that a new kind of gene therapy can improve vision in people who have lost nearly all sight to RP.

Although the IRD patient population is small compared with other retinal conditions, the research on novel therapeutic approaches is not.

The study illuminates the impact of the RP-associated Asp25Glu variant on CLCC1, showcasing a notable shift in its interaction profile.

Here, we report results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy

Significant thickness losses could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with PROM1-associated RD

Patients with XLRP treated with AGTC-501 gene therapy experienced improvements in visual function including retinal sensitivity . . .

A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.

Study demonstrates effectiveness of different doses of NR2E3 at reducing retinal degeneration and informs dose selection for clinical trials

Presents a soft artificial retina where flexible ultrathin photosensitive transistors are integrated with three-dimensional stimulation . .

Study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.

Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin | Ophthalmic Genetics | 45(3) | 275-280 |...

Biallelic pathogenic variants in IFT140 or other IFT-A complex genes can cause defective retrograde cilial transport.

Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.

Usher Syndrome Coalition’s mission raise awareness and accelerate research for most common genetic cause of combined deafness and blindness

PRPF8 mutations have been associated with severe forms of RP and with the initiation of various types of myeloid neoplasms . . .