SCLERAL PITS IN CHOROIDEREMIA
نویسندگان
چکیده
منابع مشابه
Herbert Herbert: his corneal pits and scleral slits.
PURPOSE To evaluate the life and professional work of the English ophthalmologist Herbert Herbert (1865-1942). DESIGN Historical study. METHODS The main sources for this investigation are Herbert's approximately 65 published papers and 3 monographs. Other sources are contemporary publications by other ophthalmologists and secondary historical reviews of this period. Written communications w...
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PURPOSE Mutations of the CHM gene underlie the X-linked chorioretinal degeneration choroideremia (CHM). The affected gene product, Rab Escort Protein (REP)1, mediates the posttranslational prenyl modification of Rab GTPases. In patients with CHM, the related REP2 partially compensates for the loss of function of REP1. The objective of this investigation was to study the natural history of disea...
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PURPOSE To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features. METHODS Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population...
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(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...
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ژورنال
عنوان ژورنال: Retina
سال: 2018
ISSN: 0275-004X
DOI: 10.1097/iae.0000000000001957