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Jan 28
CRX retinopathy project
Dr. Shiming Chen (Opthalmology & Visual Sciences – Washington University) has an exciting new study and is recruiting CRX families.

Jan 27
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1.


Dec 9, 2024
Hormones and protein development in females
Hormones significantly influence protein development particularly during menstruation and menopause, where fluctuations in hormone levels

Nov 30, 2024
Multigenerational Autosomal Recessive Best Disease
Retinal findings raised suspicion for this inherited retinal disease, confirmed with genetic testing.


Oct 19, 2024
New Gene Therapy for Retinitis Pigmentosa Shows Promise
 New research . . . suggests that a new kind of gene therapy can improve vision in people who have lost nearly all sight to RP.

Jul 30, 2024
WHEN RARE IS RELATIVE
Although the IRD patient population is small compared with other retinal conditions, the research on novel therapeutic approaches is not.

May 30, 2024
Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM)
The study illuminates the impact of the RP-associated Asp25Glu variant on CLCC1, showcasing a notable shift in its interaction profile.


Apr 23, 2024
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial
Here, we report results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy

Mar 29, 2024
Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period
Significant thickness losses could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with PROM1-associated RD


Mar 13, 2024
Gene Therapy Improves Functional Measures in XLRP
Patients with XLRP treated with AGTC-501 gene therapy experienced improvements in visual function including retinal sensitivity . . .

Jan 31, 2024
A Systematic Literature Review of Disease Progression Reported in RPGR-associated X-Linked Retinitis Pigmentosa
A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.

Jan 26, 2024
Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoP23H+/−
Study demonstrates effectiveness of different doses of NR2E3 at reducing retinal degeneration and informs dose selection for clinical trials


Dec 22, 2023
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report
Study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.


Dec 11, 2023
Mutations in AGBL5 associated with Retinitis pigmentosa
Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin | Ophthalmic Genetics | 45(3) | 275-280 |...

Jun 19, 2023
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
Biallelic pathogenic variants in IFT140 or other IFT-A complex genes can cause defective retrograde cilial transport.


Jun 8, 2023
Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel
Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.

Feb 1, 2023
USHER SYNDROME COALITION
Usher Syndrome Coalition’s mission raise awareness and accelerate research for most common genetic cause of combined deafness and blindness


Jan 6, 2023
PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing
PRPF8 mutations have been associated with severe forms of RP and with the initiation of various types of myeloid neoplasms . . .

Dec 15, 2022
Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model
This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain . . .


Aug 28, 2022
MERTK missense variants in three patients with retinitis pigmentosa
We report three missense variants in MERTK and present the associated phenotypic data, which are supportive of non-syndromic RP.
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