Literature DB >> 2142386

Congenital macular coloboma in Down syndrome.

K Yamaguchi1, M Tamai.   

Abstract

A 9-year-old girl with Down syndrome had bilateral congenital coloboma of the macula. She was born after an uneventful pregnancy, and the results of a Toxoplasma dye test were negative. We concluded that the condition in this patient was a rare occurrence of Down syndrome with macular coloboma.

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Year:  1990        PMID: 2142386

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  3 in total

Review 1.  An update on the genetics of ocular coloboma.

Authors:  Aisha S ALSomiry; Cheryl Y Gregory-Evans; Kevin Gregory-Evans
Journal:  Hum Genet       Date:  2019-05-09       Impact factor: 4.132

2.  Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma.

Authors:  Kosuke Abe; Jumi Shirane; Masuo Sakamoto; Fumi Tanabe; Kazuki Kuniyoshi; Chota Matsumoto; Yoshikazu Shimomura
Journal:  Clin Ophthalmol       Date:  2014-05-21

3.  Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.

Authors:  Tao Li; Ying Lin; Hongbin Gao; Chuan Chen; Yi Zhu; Bingqian Liu; Yu Lian; Yonghao Li; Wenli Zhou; Hongye Jiang; Haichun Li; Qingxiu Wu; Xiaoling Liang; Chenjin Jin; Xinhua Huang; Lin Lu
Journal:  Mol Med Rep       Date:  2017-06-29       Impact factor: 2.952

  3 in total

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