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眼部翼状胬肉:结膜早期成人翼状胬肉的显性遗传。

Winglets of the eye: dominant transmission of early adult pterygium of the conjunctiva.

作者信息

Hecht F, Shoptaugh M G

机构信息

Genetics Center of Genetrix, Inc., Scottsdale, Arizona.

出版信息

J Med Genet. 1990 Jun;27(6):392-4. doi: 10.1136/jmg.27.6.392.

Abstract

A pterygium, a wing-like thickening, of the bulbar conjunctiva is of environmental interest because it can occur on prolonged exposure to wind and weather. We describe a family with pterygium in two generations without a history of unusual exposure to the elements. There were six females and five males (including a set of male twins) with seven bilateral and four unilateral pterygia. The onset was unique in being in early adulthood, from the late teens through the twenties. This new genetic form can be distinguished by the age of onset from congenital and mid-adult pterygia, which are inherited as autosomal dominant traits. Irrespective of age, the treatment of conjunctival pterygium is surgical excision.

摘要

翼状胬肉是一种球结膜呈翼状增厚的病变,因其可在长期暴露于风和天气的情况下发生,故而具有环境方面的研究意义。我们描述了一个两代人都患有翼状胬肉的家族,他们并无异常暴露于此类环境因素的病史。该家族中有6名女性和5名男性(包括一对男性双胞胎),共患有7例双侧翼状胬肉和4例单侧翼状胬肉。其发病情况独特,发病年龄在成年早期,即从十几岁后期到二十几岁。这种新的遗传形式可通过发病年龄与先天性和成年中期翼状胬肉相区分,后两者是以常染色体显性性状遗传的。无论年龄如何,结膜翼状胬肉的治疗方法均为手术切除。

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本文引用的文献

1
FAMILIAL PREDISPOSITION TO PTERYGIUM FORMATION; REPORT OF A FAMILY.
Am J Ophthalmol. 1964 Mar;57:481-2. doi: 10.1016/0002-9394(64)92668-6.
2
Pterygium: its incidence, heredity and etiology.翼状胬肉:其发病率、遗传因素及病因学
Am J Ophthalmol. 1960 Oct;50:635-44. doi: 10.1016/0002-9394(60)90245-2.
5
[On the genetic problems of corneal pterygium].
Klin Monbl Augenheilkd. 1965 Nov;147(4):574-9.
6
An investigation of aetiology and heredity of pterygium. Report of 11 cases in a family.
Acta Ophthalmol (Copenh). 1987 Aug;65(4):413-6. doi: 10.1111/j.1755-3768.1987.tb07016.x.

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