Latest Development on Genetics of Common Retinal Diseases

Many complex forms of retinal diseases are common and pan-ethnic in occurrence. Among them, neovascular age-related macular degeneration, ...

Perspective on Genes and Mutations Causing Retinitis Pigmentosa

Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa.

Although some genetic associations have been confirmed and validated, individual genes or polygenic risk markers of clinical value have not been ...

Gene therapy for retinal diseases: From genetics to treatment

It has several subtypes based on the genes involved and clinical presentation. Common genes implicated are USH2A and MYO7A. Clinical trials of GT explore ...

Gene Therapy for Retinal Degenerative Diseases - IOVS

Development of modifier gene therapies has expanded rapidly for systemic diseases, including neuromuscular disease, cystic fibrosis, spinal muscular atrophy, ...

Gene-Based Therapeutics for Inherited Retinal Diseases - Frontiers

Less common but responsible for one of the more severe IRD phenotypes seen in clinical practice is RPE65, whose mutation can cause an early onset RCD termed ...

Nationwide genetic analysis of more than 600 families with inherited ...

USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod ...

Gene Therapy for Inherited Retinal Diseases: From Laboratory ...

Gene-agnostic therapeutic approaches aim to address the common pathways causing retinal degeneration, benefiting all patients with IRD ...

Gene Therapy for Inherited Retinal Diseases - Duke Health

Gene therapy is a new and promising treatment for some people with retinitis pigmentosa and Leber congenital amaurosis. To qualify, you or your child must have ...

Inherited Retinal Diseases - Prevent Blindness

Each IRD is caused by at least one gene that is not working as it should. IRDs can affect individuals of all ages, can progress at different rates, and are rare ...

Inherited Retinal Disease - Penn Medicine

This latest development in gene therapy is the result of more than two decades of painstaking genetic research by Jean Bennett, MD, PhD, and Albert M. Maguire, ...

Inherited Retinal Disorders | Boston Children's Hospital

Retinal gene therapy provides a working copy of the RPE65 gene to the retinal cells of the eye. A copy of the working gene is injected beneath the retina (the ...

Gene Therapy in Inherited Retinal Diseases: An Update on Current ...

The most common CEP290 mutation is the so called IVS26 c.2991+1655A>G mutation (p.Cys998X), an adenine to guanine point mutation located within intron 26 ...

The Growing Emphasis on Genetics in Retinal Disease

In determining who is at risk for such serious, vision-robbing inherited retinal diseases as retinitis pigmentosa (RP) and Leber's congenital ...

Whole genome sequencing identifies elusive variants in genetically ...

Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 ...

Genetic Testing for Inherited Retinal Diseases

Genetic testing for inherited retinal diseases (IRD) has significantly increased in the last decade. Scientists have discovered over 300 genes that cause IRDs.

Retinal Disorders & Ophthalmic Genetics - Los Angeles - UCLA Health

Some people may experience complications related to a genetic eye disease, such as fluid buildup between cells in the retina (macular edema) or early-onset ...

Inherited retinal disease (IRD) research | CERA

Millions of working-age people worldwide are affected by IRDs like retinitis pigmentosa, macular dystrophy, or a range of rarer genetic conditions. More than ...

Inherited Eye Diseases: The Importance of Early Diagnosis

Thanks to accelerating advances in genetic studies, there's more hope than ever before for treating eye disease. However early diagnosis is ...

Genetic epidemiology of inherited retinal diseases in a large patient ...

Mutations in BBS genes (BBS1, BBS10, BBS12, BBS2, BBS4, BBS9) identified in Bardet-Biedl patients were the third most common genetic cause ...