Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies
نویسندگان
چکیده
منابع مشابه
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The ophthalmological characterization also included assessment of the photoreceptor layer integrity ...
متن کاملmicroRNAs and inherited retinal dystrophies.
Inherited retinal dystrophies (IRD) are a heterogeneous group of blinding diseases that affect more than 200,000 Americans and millions worldwide (1). Identification of genes that are responsible for IRD when defective is of great importance to the basic understanding as well as development of efficient gene diagnosis and treatment. Thus far, 272 genetic loci are linked to various forms of IRD;...
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15 صفحه اولCRB1 mutations in inherited retinal dystrophies.
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal ...
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ژورنال
عنوان ژورنال: Clinical Ophthalmology
سال: 2021
ISSN: 1177-5483
DOI: 10.2147/opth.s293381