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一种新发现的格子状角膜营养不良的临床特征。

Clinical features of a newly recognized type of lattice corneal dystrophy.

作者信息

Hida T, Tsubota K, Kigasawa K, Murata H, Ogata T, Akiya S

出版信息

Am J Ophthalmol. 1987 Sep 15;104(3):241-8. doi: 10.1016/0002-9394(87)90411-9.

DOI:10.1016/0002-9394(87)90411-9
PMID:3498366
Abstract

We examined five patients with an undescribed type of lattice corneal dystrophy. All patients were in the seventh to ninth decades of life and had developed decreasing vision late in life. None of the patients had suffered from recurrent epithelial erosions, there was no overt evidence of systemic amyloidosis, and the lattice lines were much thicker than those usually observed in lattice corneal dystrophy types I and II. Available pedigree data from two families of three patients indicated that the corneal disorder affected several siblings but not the parents or offspring. Two patients had no affected family members. There was no known consanguinity in any of the four families.

摘要

我们检查了5例患有未描述类型的格子状角膜营养不良的患者。所有患者年龄在70至90岁之间,且在晚年视力逐渐下降。所有患者均未出现复发性上皮糜烂,没有明显的系统性淀粉样变性证据,并且格子状线条比通常在I型和II型格子状角膜营养不良中观察到的要厚得多。来自两个有三名患者的家族的现有谱系数据表明,角膜疾病影响了几个兄弟姐妹,但未影响父母或后代。两名患者没有受影响的家庭成员。四个家族中均无已知的近亲关系。

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Clinical features of a newly recognized type of lattice corneal dystrophy.一种新发现的格子状角膜营养不良的临床特征。
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Lattice dystrophy type 1: a report of 8 families.1型格子状角膜营养不良:8个家系的报告
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An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.一个转化生长因子β诱导基因与格子状角膜营养不良 I 型相关的 Arg124Cys 突变在中国家系中。
Indian J Ophthalmol. 2022 Jan;70(1):85-89. doi: 10.4103/ijo.IJO_33_21.
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Tetsuo Hida, M.D. (1948-2008).飞田哲夫,医学博士(1948 - 2008)。
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Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.
与TGFBI基因中的一种新型纯合突变(Val624Met)相关的非典型不对称格子状角膜营养不良。
Mol Vis. 2008 Mar 12;14:495-9.
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Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene.转化生长因子β诱导蛋白(TGFBI)基因L527R纯合突变患者的III型格子状角膜营养不良
Jpn J Ophthalmol. 2006 Jan-Feb;50(1):62-4. doi: 10.1007/s10384-005-0260-6.
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H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.TGFBI(BIGH3)基因的H626R和R124C突变导致越南人发生格子状角膜营养不良。
Br J Ophthalmol. 2003 Jun;87(6):686-9. doi: 10.1136/bjo.87.6.686.
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Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.英国一个家族中出现的伴有全身性家族性淀粉样变性(淀粉样变性Ⅴ型)的迟发性格子状角膜营养不良。
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Primary gelatinous drop-like keratopathy.原发性胶样滴状角膜病变
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