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Fleck (Mouchetée) dystrophy of the cornea.

作者信息

Patten J T, Hyndiuk R A, Donaldson D D, Herman S J, Ostler H B

出版信息

Ann Ophthalmol. 1976 Jan;8(1):25-32.

PMID:1082286
Abstract

Five families, four Caucasian and one Negro (14 patients) with fleck (speckled or Mouchetée) dystrophy of the cornea are presented. In each, the typical presentation of fine scattered fleck-like dystrophic lesions was found throughout all layers of the central and peripheral corneal stroma but not affecting the epithelium, Bowman's membrane, Descemet's membrane or the endothelium. Clear stroma was noted between each lesion. Visual acuity in all patients was normal or only slightly affected. Except for an occasional patient with minor photophobia, almost all patients found affected with this dystrophy were asymptomatic in regard to their corneal condition. There was no decrease in corneal sensitivity noted in any patient. All families displayed evidence of an autosomal dominant hereditary pattern and progression of the dystrophy is slow and benign in character. With the exception of one family with atopic disease, no systemic organic illness was noted by histroy in all of the families. Laboratory screening of 2 of the 5 families showed no abnormalities of any systemic metabolic disorders. The characteristic clinical picture and favorable prognosis of this condition enables one to easily differentiate this condition from other known parenchymatous corneal dystrophies. The incidence of this condition is probably much more common than the reported cases in the literature might indicate.

摘要

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A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.在一名患有斑点状角膜营养不良的日本患者中发现了磷酸肌醇激酶含FYVE结构域基因的一种新型突变(p.Glu1389AspfsX16)。
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Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
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The IC3D classification of the corneal dystrophies.角膜营养不良的IC3D分类
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