Article
[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Jan 2024
Liu X Y, Tao Y F, Mao Y K, Chen Z J, Wang Y, Hong Y F, Fan N
Abstract excerpt
This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure persisting for over a month. The peak intraocular pressure reached approximately 25 mmHg (1 mmHg=0.133 kPa) in both eyes, with a corneal diameter...
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