نتایج جستجو برای: fuchs endothelial dystrophy

تعداد نتایج: 155710  

Journal: :Human molecular genetics 2008
Eranga N Vithana Patricio E Morgan Vedam Ramprasad Donald T H Tan Victor H K Yong Divya Venkataraman Anandalakshmi Venkatraman Gary H F Yam Soumittra Nagasamy Ricky W K Law Rama Rajagopal Chi P Pang Govindsamy Kumaramanickevel Joseph R Casey Tin Aung

The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...

Journal: :Journal of medical genetics 1994
M Giordano M S De Angelis R Mutani P M Richiardi

A new case of regression of the CTG copy number in the myotonic dystrophy allele was observed in a 7 year old boy. His affected father had an expanded allele of about 100 repeats in his lymphocyte DNA while the child showed a 60 repeat allele, of the same size as the present in the grandfather. Analysis of the father's sperm DNA allowed us to detect an expanded fragment of approximately the sam...

Journal: :The British journal of ophthalmology 1943
T L De Courcy

impossible the proper filtering action of this part of the cornea. One of us has observed this remarkable clinical picture once only. We are convinced other less obvious cases have been over-looked. In -the future we shall be on the look out for cases of this type, and now that attention has bEen drawn to it, perhaps others wvill report similar cases. A suggested name for this affection might b...

Journal: :Investigative Opthalmology & Visual Science 2009

Journal: :Japanese journal of ophthalmology 2000
K Kitagawa A Fujisawa T Mizuno K Sasaki

PURPOSE To evaluate the clinical aspects of patients with primary cornea guttata and the morphology of their corneal endothelial cells. METHODS Twenty-three patients who visited Kanazawa Medical University Hospital or related hospitals in Ishikawa or Fukui prefectures and were diagnosed as having primary cornea guttata by slit lamp microscopy and contact specular microscopy underwent an analy...

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