Molecular genetics of human retinal dystrophies
نویسندگان
چکیده
منابع مشابه
Molecular genetics of macular dystrophies.
Macular dystrophies represent a heterogeneous group of disorders spanning a broad spectrum of clinical, histopathological, and laboratory findings. Despite this variability, funduscopic changes involving the macula and retinal pigment epithelium (RPE) and clinically significant loss of central or functional vision are characteristic of these disorders. As a group of diseases with a strong genet...
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PURPOSE To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2). METHODS Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecul...
متن کاملThe current status of molecular diagnosis of inherited retinal dystrophies.
PURPOSE OF REVIEW We are witnessing lightning-fast advances in the molecular diagnosis of inherited retinal dystrophies, mainly due to the widespread use of next-generation sequencing technologies. The purpose of this review is to highlight the breadth of findings from this in-depth testing approach, and to propose changes to our traditional testing and diagnostic paradigms. Lessons learned fro...
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The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Biet...
متن کاملThe Molecular Basis of Retinal Dystrophies in Pakistan
The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no compre...
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ژورنال
عنوان ژورنال: Eye
سال: 1998
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1998.147