Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis
نویسندگان
چکیده
منابع مشابه
Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
PURPOSE An unusual retinal vascular morphology in an enucleated eye from a patient with Leber congenital amaurosis (LCA) has been associated with a mutation in AIPL1. The AIPL1 protein is expressed in the pineal gland and retinal photoreceptors. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina....
متن کاملVariations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
OBJECTIVE To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. METHODS DNA samples from 276 individuals with nonsyndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. RESULTS Nine of the 276 LCA proband...
متن کاملLeber congenital amaurosis
Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...
متن کاملGene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis
Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder. The Cep290rd16 (retinal degeneration 16) mouse (a model of LCA) carries a mutation in the Cep290 gene. This mutation leads to shorter cilia formation and defective photoreceptor st...
متن کاملVision 1 year after gene therapy for Leber's congenital amaurosis.
To the Editor: The discussion of donor assessment by Kotton et al. suggests that exclusion criteria from the Centers for Disease Control and Prevention (CDC) (Table 3 of the article) are used to reduce the likelihood of transmission of the human immunodeficiency virus (HIV). In fact, the CDC’s criteria do not have an exclusionary function but define a group of donors considered to have a high r...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2021
ISSN: 1525-0016
DOI: 10.1016/j.ymthe.2021.03.021