Molecular analysis of Italian patients with congenital glaucoma
نویسندگان
چکیده
منابع مشابه
Molecular analysis of Italian patients with congenital glaucoma.
Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in the CYP1B1 gene, a member of the cytochrome P450 gene family, have been report...
متن کاملGenetic analysis of Italian patients with congenital tufting enteropathy.
BACKGROUND Congenital tufting enteropathy (CTE), an inherited autosomal recessive rare disease, is a severe diarrhea of infancy which is clinically characterized by absence of inflammation and presence of intestinal villous atrophy. Mutations in the EpCAM gene were identified to cause CTE. Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described. ME...
متن کاملMolecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study
PURPOSE To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study. All patients underwent detailed clinical examinations to confirm the diagnosis of PCG. The families of index patients were also examined. Genealogical information was obtained by pedigree a...
متن کامل[Automated perimetry in patients with primary congenital glaucoma].
PURPOSE To identify and characterize defects using the automated perimetry test in patients with primary congenital glaucoma. METHODS Automated visual fields and charts of 81 eyes (48 patients) with congenital glaucoma were retrospectively analyzed, 15 being normal eyes (group N) and 66 eyes with primary congenital glaucoma (group G). Eyes of group G were grouped in eyes without perimetric ch...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2011
ISSN: 1381-6810,1744-5094
DOI: 10.3109/13816810.2011.596891