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Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts

  • Published:2022-12-01 Issue:13 Volume:63 Page:1
  • ISSN:1552-5783
  • Container-title:Investigative Opthalmology & Visual Science
  • language:en
  • Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Hao Xiao-Dan1,Yao Yi-Zhi1,Xu Kai-Ge1,Dong Bin1,Xu Wen-Hua2,Zhang Jing-Jing34

Affiliation:

1. Institute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China

2. Department of Inspection, Medical Faculty of Qingdao University, Qingdao, China

3. Eye Institute of Shandong First Medical University, Eye Hospital of Shandong First Medical University (Shandong Eye Hospital), Jinan, China

4. State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Qingdao, China

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference43 articles.

1. Keratoconus;Rabinowitz;Surv Ophthalmol,1998

2. The keratoconus enigma: A review with emphasis on pathogenesis;Ferrari;Ocul Surf,2020

3. Expert consensus on diagnosis and treatment of keratoconus in China (2019);Keratology Group OBoCA;Chinese J Ophthalmol,2019

4. A review of keratoconus: Diagnosis, pathophysiology, and genetics;Mas Tur;Surv Ophthalmol,2017

5. A new perspective on the genetics of keratoconus: why have we not been more successful?;Valgaeren;Ophthalmic Genet,2018

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