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Article

Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.

Ophthalmic genetics - 1 Feb 2021

Liang Tingyi, Zhang Xiang, Xu Yu, Zhao Peiquan

Abstract excerpt

BACKGROUND: Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome. MATERIALS AND METHODS: The comprehensive ophthalmic findings were presented, as well as treatment history and systemic manifestations. In addition, genetic testing was performed to...

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PMID: 33034244
DOI: 10.1080/13816810.2020.1827443

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