Genetic and Rare Diseases (review of Leber congenital amaurosis)
Summary Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features...
View ArticleGenetic and Rare Diseases, Bardet-Biedl Syndrome 1
Disease at a Glance Summary Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod...
View ArticleLeber’s congenital amaurosis and the role of gene therapy in retinal disorders
Go to: Abstract Leber’s congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE....
View ArticleResearching Gene Therapy for BBS1, using animal models
Abstract Purpose. To study safety and efficacy of subretinal adeno-associated virus (AAV) vector AAV-Bbs1 injection for treatment of a mouse model of Bardet-Biedl syndrome type 1 (BBS1). Methods....
View ArticleReal World Luxturna Data Shows Good Efficacy at 2 years
Findings from the ongoing PERCEIVE study demonstrate continued safety and efficacy of voretigene neparvovec (Luxturna; Spark Therapeutics) in patients with RPE65-mediated inherited retinal dystrophy...
View ArticleEvaluating old drug (Reserpine) for new use in treating retinitis pigmentosa
Abstract Ciliopathies manifest from sensory abnormalities to syndromic disorders with multi-organ pathologies, with retinal degeneration a highly penetrant phenotype. Photoreceptor cell death is a...
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Bardet-Biedl Syndrome: Understanding a Rare Genetic Disorder
Bardet-Biedl SyndromeUnderstanding a Rare Genetic Disorder Bardet-Biedl Syndrome (BBS) is a rare and complex genetic disorder that affects multiple systems of the body. This condition is characterized...
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Diagnostic Process for Bardet-Biedl Syndrome
Diagnostic Process for Bardet-Biedl Syndrome Bardet-Biedl Syndrome (BBS) manifests through a combination of symptoms, which can vary in severity among affected individuals. Common symptoms include...
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The Genetic Variants of Bardet-Biedl Syndrome
The Genetic Variants of Bardet-Biedl SyndromeCommon and Rare Genetic Mutations BBS is a genetically heterogeneous disorder caused by mutations in various genes, impacting the proper function of cilia,...
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BBS-Associated Vision Loss: Mechanisms, Progression, and Subtype Variability
BBS-Associated Vision LossMechanisms, Progression, and Subtype Variability Bardet-Biedl Syndrome (BBS) is a complex genetic disorder characterized by a wide spectrum of symptoms, including vision...
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