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脆角膜、蓝色巩膜和红发综合征（脆角膜综合征）。

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

作者信息

Ticho U, Ivry M, Merin S

出版信息

Br J Ophthalmol. 1980 Mar;64(3):175-7. doi: 10.1136/bjo.64.3.175.

DOI:10.1136/bjo.64.3.175
PMID:7387950
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1039382/
Abstract

A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.

摘要

一个突尼斯犹太家庭的两名兄弟姐妹出现了红发、蓝色巩膜和脆性角膜并伴有反复自发性穿孔的综合征。这种疾病的遗传方式为常染色体隐性遗传。这是对该综合征的第二次描述，该综合征应被称为“脆性角膜综合征”。到目前为止，此综合征仅在突尼斯犹太家庭中被报道过。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/2f489ebbf8a6/brjopthal00195-0032-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/98acd38b9bfc/brjopthal00195-0032-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/db372ad12060/brjopthal00195-0032-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/4f5bc31e2ed0/brjopthal00195-0032-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/a06aefd7544d/brjopthal00195-0032-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/2f489ebbf8a6/brjopthal00195-0032-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/98acd38b9bfc/brjopthal00195-0032-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/db372ad12060/brjopthal00195-0032-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/4f5bc31e2ed0/brjopthal00195-0032-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/a06aefd7544d/brjopthal00195-0032-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1039382/2f489ebbf8a6/brjopthal00195-0032-e.jpg

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Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).在一个携带ZNF469突变（p.E1392X）的近亲家庭中出现伴有或不伴有角膜脆性（脆性角膜综合征）的蓝色巩膜。
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Blue sclerae with keratoglobus and brittle cornea.蓝色巩膜伴球形角膜和角膜脆裂。
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本文引用的文献

1
Marfan's syndrome; report on five cases in one family.马凡氏综合征；一个家族中五例病例报告。
AMA Am J Dis Child. 1955 Apr;89(4):414-20.
2
BLUE SCLERAS WITH KERATOGLOBUS.蓝色巩膜伴球形角膜
Am J Ophthalmol. 1964 Oct;58:678-82. doi: 10.1016/0002-9394(64)91389-3.
3
Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.蓝色巩膜和球形角膜。一种全身性结缔组织疾病的眼部体征。
Clin Ophthalmol. 2019 Aug 12;13:1511-1516. doi: 10.2147/OPTH.S185287. eCollection 2019.
4
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations.圆锥角膜交联术后角膜穿孔伴潜在致病性 ZNF469 突变。
Cornea. 2019 Aug;38(8):1033-1039. doi: 10.1097/ICO.0000000000002002.
5
Brittle cornea syndrome: a case report and review of the literature.脆性角膜综合征：一例病例报告及文献综述
BMC Ophthalmol. 2018 Sep 18;18(1):252. doi: 10.1186/s12886-018-0903-2.
6
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.ZNF469 是脆性角膜综合征（BCS）中经常发生突变的基因，它是一个单外显子基因，可能调节几种细胞外基质成分的表达。
Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26.
7
Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone.PRDM5 通过与 RNA 聚合酶 II 结合调节发育中的骨骼中的胶原基因转录。
PLoS Genet. 2012;8(5):e1002711. doi: 10.1371/journal.pgen.1002711. Epub 2012 May 10.
8
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.锌指蛋白469基因中的有害突变会导致脆性角膜综合征。
Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1.
9
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.脆性角膜综合征：一种遗传性结缔组织疾病，不同于Ⅵ型埃勒斯-当洛综合征和眼脆症，具有眼球自发穿孔、蓝色巩膜、红发以及正常的胶原赖氨酸羟化。
Eur J Pediatr. 1990 Apr;149(7):465-9. doi: 10.1007/BF01959396.
Br J Ophthalmol. 1969 Jan;53(1):53-8. doi: 10.1136/bjo.53.1.53.
4
Serious ophthalmological complications in the Ehlers-Danlos syndrome.埃勒斯-当洛综合征的严重眼科并发症。
Br J Ophthalmol. 1970 Apr;54(4):263-8. doi: 10.1136/bjo.54.4.263.
5
Brittle cornea. A familial trait associated with blue sclera.脆性角膜。一种与蓝色巩膜相关的家族性特征。
Am J Ophthalmol. 1968 Jul;66(1):67-9.
6
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.两名患有培养的皮肤成纤维细胞中赖氨酰羟化酶活性缺乏但皮肤中仅有轻度羟赖氨酸缺乏的兄弟姐妹的埃勒斯-当洛综合征。
Helv Paediatr Acta. 1975 Oct;30(3):255-74.
7
Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.赖氨酸羟化酶活性正常的眼部埃勒斯-当洛综合征
Arch Ophthalmol. 1976 Sep;94(9):1489-91. doi: 10.1001/archopht.1976.03910040323006.
8
[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].蓝色巩膜和球形角膜综合征（眼型埃勒斯-当洛综合征（作者译））
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1977 Dec 31;204(4):235-46. doi: 10.1007/BF00415317.