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Inherited Retinal Disease

Best of 2023: Inherited Retinal Diseases

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No-cost Programs Look to Widen Availability of Genetic Testing for Inherited Retinal Diseases
The article emphasizes the importance of genetic testing for individuals impacted by inherited retinal diseases (IRDs), which can lead to severe vision loss or blindness due to malfunctioning genes. Despite the potential benefits of genetic testing, the high costs involved have been a significant barrier for many. Initiatives like the Inherited Retinal Disease Program and the My Retina Tracker Genetic Testing Program aim to make genetic testing more accessible by offering it at no cost to eligible individuals in the United States and Canada. Genetic testing can provide crucial information for diagnosis, understanding risk factors for family members, and determining eligibility for clinical trials or treatments. While the article acknowledges the progress in treatment development for IRDs, it also highlights the limitations of genetic testing, including potential anxiety for family members and the possibility of inconclusive results. The need for consultation with retinal doctors or genetic counselors is emphasized, and the My Retina Tracker Registry is presented as a valuable resource for connecting patients with researchers and clinical trials.

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More than half of patients with IRD who undergo genetic testing have an incorrect initial clinical diagnosis
There is a significant delay in diagnosing patients with inherited retinal diseases (IRDs) due to delays in genetic evaluation and testing. The study, which focused on 131 patients with suspected IRDs, revealed that many patients are initially misdiagnosed, leading to missed opportunities for appropriate counseling, resources, referrals, and potential eligibility for clinical trials. The data also indicates that 69% of patients who underwent genetic testing received a correct diagnosis, and 51% had an incorrect initial clinical diagnosis. The average delay in reaching a correct diagnosis was 15 years, emphasizing the importance of addressing these challenges and improving the diagnostic process for patients with IRDs.

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Sickle cell retinopathy study offers key insights into inherited retinal conditions
A study conducted by the Sickle Cell Clinical Research and Intervention Program underscores the critical importance of regular ophthalmic intervention for individuals with sickle cell disease (SCD). The study, which examined pediatric patients with SCD over a substantial period, found that 1 in 3 patients had retinopathy, with 9% of them requiring treatment.

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Real-world study shows positive outcomes for gene therapy in patients with RPE65-IRD
In a real-world study evaluating the use of voretigene neparvovec (Luxturna) for treating retinal pigment epithelium 65-inherited retinal dystrophy (RPE65-IRD), promising outcomes were observed. The retrospective study, conducted at a single center, involved 30 eyes from 19 patients, with a median follow-up of 15 months. The treatment showcased stability in median best-corrected visual acuity (BCVA) and mean retinal thickness, with notable improvements in various visual parameters, particularly in the pediatric population.

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