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...
متن کاملThe genetics of inherited macular dystrophies.
The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and atrophy of the macula and underlying retinal pigment epithelium (RPE). The different forms of macular degeneration encompass a wide range of clinical, psychophysical and histological findings. The complexity of the molecular basis of monogenic macular disease is now beginning t...
متن کاملMolecular genetics of Chinese families with TGFBI corneal dystrophies
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 کاملMolecular genetics of age-related macular degeneration.
The numerous conditions that clinicians group under the term 'age-related macular degeneration' (AMD) are collectively the most common cause of severe visual loss in the developed world. Moreover, the number of people affected by these diseases is expected to nearly double in the next 25 years. A growing body of data suggests that a large fraction of AMD is caused by genetic factors. As a resul...
متن کاملThe molecular genetics of the corneal dystrophies--current status.
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...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1996
ISSN: 0007-1161
DOI: 10.1136/bjo.80.11.1018