منابع مشابه
Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance
Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants. Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both daughter...
متن کاملUnusual superficial variant of granular corneal dystrophy with amyloid deposition.
Superficial granular corneal dystrophy (SGCD) is a variant of GCD that is restricted to involvement of the Bowman layer and the superficial corneal stroma. Superficial and classic GCD result from mutations in the human transforming growth factor –induced gene (BIGH3) on human chromosome 5 (5q31). We report an unusual case of a patient with SGCD in which the typical deposits of GCD were associat...
متن کاملUnusual inheritance of Becker type muscular dystrophy.
A family with Becker type muscular dystrophy is described, in which two females were severely affected, giving the family tree the appearance of dominant inheritance.
متن کاملMeretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, ...
متن کاملAn unusual corneal lesion.
Case report A healthy 43-year-old woman attended the eye clinic with a history that 4 days previously, on waking, she noticed for the first time that the vision had become blurred in her right eye, and she could see haloes round lights. The right eye had always had worse vision than the left. There was no history of ocular trauma. As she had been adopted as a child the history of her family and...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1939
ISSN: 0035-9157
DOI: 10.1177/003591573903200727